Incidental Mutation 'IGL02728:Pigp'
| ID |
305336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pigp
|
| Ensembl Gene |
ENSMUSG00000022940 |
| Gene Name |
phosphatidylinositol glycan anchor biosynthesis, class P |
| Synonyms |
Dcrc, Dscr5 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
IGL02728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
94159622-94171874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94168466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 37
(P37S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113905]
[ENSMUST00000113906]
[ENSMUST00000113910]
[ENSMUST00000113914]
[ENSMUST00000113917]
[ENSMUST00000117648]
[ENSMUST00000119131]
[ENSMUST00000138514]
[ENSMUST00000145883]
[ENSMUST00000141856]
[ENSMUST00000143145]
[ENSMUST00000139513]
[ENSMUST00000122895]
[ENSMUST00000147046]
[ENSMUST00000147352]
[ENSMUST00000145432]
[ENSMUST00000232294]
[ENSMUST00000153988]
[ENSMUST00000149885]
[ENSMUST00000154243]
[ENSMUST00000155692]
[ENSMUST00000152117]
[ENSMUST00000153062]
[ENSMUST00000151770]
[ENSMUST00000150097]
[ENSMUST00000231569]
[ENSMUST00000150346]
|
| AlphaFold |
Q9JHG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113905
AA Change: P37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940
AA Change: P37S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-P
|
10 |
125 |
7.6e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113906
AA Change: P37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940
AA Change: P37S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-P
|
10 |
125 |
7.6e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113910
AA Change: P66S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940
AA Change: P66S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-P
|
39 |
154 |
1.5e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113914
AA Change: P110S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940
AA Change: P110S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
19 |
N/A |
INTRINSIC |
|
Pfam:PIG-P
|
84 |
197 |
1e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113917
AA Change: P70S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109550
Gene: ENSMUSG00000022940
AA Change: P70S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-P
|
43 |
135 |
5.6e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117648
|
| SMART Domains |
Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
231 |
264 |
3.61e-2 |
SMART |
|
TPR
|
265 |
298 |
3.32e-1 |
SMART |
|
Blast:TPR
|
300 |
332 |
2e-12 |
BLAST |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
TPR
|
576 |
609 |
2.55e-2 |
SMART |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1291 |
N/A |
INTRINSIC |
|
coiled coil region
|
1472 |
1570 |
N/A |
INTRINSIC |
|
low complexity region
|
1876 |
1887 |
N/A |
INTRINSIC |
|
RING
|
1931 |
1970 |
7e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119131
|
| SMART Domains |
Protein: ENSMUSP00000113311
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
229 |
285 |
1.1e-12 |
PFAM |
|
Pfam:TPR_1
|
232 |
264 |
2.1e-4 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138514
AA Change: P70S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940
AA Change: P70S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIG-P
|
43 |
152 |
1.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145883
|
| SMART Domains |
Protein: ENSMUSP00000123442
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
64 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141856
|
| SMART Domains |
Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_1
|
90 |
121 |
1e-6 |
PFAM |
|
Pfam:TPR_2
|
90 |
121 |
7.9e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143145
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139513
|
| SMART Domains |
Protein: ENSMUSP00000117881
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122895
|
| SMART Domains |
Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
3.61e-2 |
SMART |
|
TPR
|
247 |
280 |
3.32e-1 |
SMART |
|
Blast:TPR
|
282 |
314 |
3e-12 |
BLAST |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
TPR
|
558 |
591 |
2.55e-2 |
SMART |
|
low complexity region
|
702 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147046
|
| SMART Domains |
Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
175 |
206 |
5.3e-6 |
PFAM |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147352
|
| SMART Domains |
Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
3.61e-2 |
SMART |
|
TPR
|
247 |
280 |
3.32e-1 |
SMART |
|
Blast:TPR
|
282 |
314 |
3e-12 |
BLAST |
|
low complexity region
|
426 |
441 |
N/A |
INTRINSIC |
|
TPR
|
558 |
591 |
2.55e-2 |
SMART |
|
low complexity region
|
702 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1014 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145432
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127667
|
| SMART Domains |
Protein: ENSMUSP00000122425
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
22 |
89 |
4.7e-16 |
PFAM |
|
Pfam:TPR_2
|
24 |
57 |
5.7e-4 |
PFAM |
|
Pfam:TPR_1
|
25 |
57 |
3.5e-5 |
PFAM |
|
Pfam:TPR_9
|
35 |
103 |
3.2e-6 |
PFAM |
|
Pfam:TPR_1
|
58 |
89 |
2.1e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151192
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232294
AA Change: P37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153988
|
| SMART Domains |
Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
1 |
22 |
3e-6 |
BLAST |
|
low complexity region
|
134 |
149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149885
|
| SMART Domains |
Protein: ENSMUSP00000122006
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_2
|
1 |
31 |
3.5e-4 |
PFAM |
|
Pfam:TPR_11
|
1 |
58 |
7.8e-16 |
PFAM |
|
Pfam:TPR_1
|
2 |
31 |
1.8e-5 |
PFAM |
|
Pfam:TPR_9
|
9 |
58 |
2.5e-6 |
PFAM |
|
Pfam:TPR_17
|
20 |
53 |
4.2e-7 |
PFAM |
|
Pfam:TPR_1
|
32 |
58 |
2.5e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155692
|
| SMART Domains |
Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
250 |
283 |
3.61e-2 |
SMART |
|
TPR
|
284 |
317 |
3.32e-1 |
SMART |
|
Blast:TPR
|
319 |
351 |
3e-12 |
BLAST |
|
low complexity region
|
463 |
478 |
N/A |
INTRINSIC |
|
TPR
|
595 |
628 |
2.55e-2 |
SMART |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
coiled coil region
|
784 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
1037 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1069 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152117
|
| SMART Domains |
Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
SCOP:d1ihga1
|
69 |
201 |
6e-8 |
SMART |
|
Blast:TPR
|
175 |
208 |
1e-14 |
BLAST |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
coiled coil region
|
364 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151770
|
| SMART Domains |
Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
231 |
264 |
3.61e-2 |
SMART |
|
TPR
|
265 |
298 |
3.32e-1 |
SMART |
|
Blast:TPR
|
300 |
332 |
3e-12 |
BLAST |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
TPR
|
576 |
609 |
2.55e-2 |
SMART |
|
low complexity region
|
720 |
732 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150097
|
| SMART Domains |
Protein: ENSMUSP00000119035
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
1 |
22 |
1e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150346
|
| SMART Domains |
Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
175 |
206 |
9.6e-6 |
PFAM |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
coiled coil region
|
364 |
395 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
T |
9: 90,073,880 (GRCm39) |
|
probably benign |
Het |
| Als2 |
A |
G |
1: 59,235,506 (GRCm39) |
V726A |
probably benign |
Het |
| Apba1 |
G |
A |
19: 23,922,269 (GRCm39) |
G779E |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,818,528 (GRCm39) |
V2167E |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,983,846 (GRCm39) |
K566E |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,389,319 (GRCm39) |
F347L |
probably benign |
Het |
| Btg2 |
T |
C |
1: 134,006,643 (GRCm39) |
|
probably benign |
Het |
| Cblb |
T |
A |
16: 52,003,672 (GRCm39) |
S717T |
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,198 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,828,968 (GRCm39) |
N312S |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,530,107 (GRCm39) |
T1490S |
probably damaging |
Het |
| Col7a1 |
T |
A |
9: 108,813,172 (GRCm39) |
C2906S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,049,779 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,793,765 (GRCm39) |
V500E |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,739 (GRCm39) |
D469V |
probably damaging |
Het |
| Dhh |
A |
T |
15: 98,792,192 (GRCm39) |
|
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,646,642 (GRCm39) |
R231G |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,356,495 (GRCm39) |
S122P |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,005,955 (GRCm39) |
I2275V |
probably benign |
Het |
| Dock8 |
A |
C |
19: 25,109,584 (GRCm39) |
N922T |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,945 (GRCm39) |
L154P |
probably damaging |
Het |
| Eif4ebp1 |
C |
A |
8: 27,763,510 (GRCm39) |
P101Q |
possibly damaging |
Het |
| Eif4g1 |
T |
G |
16: 20,505,502 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
G |
13: 117,369,301 (GRCm39) |
M50V |
probably benign |
Het |
| Eml4 |
T |
C |
17: 83,780,568 (GRCm39) |
|
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,803 (GRCm39) |
R65L |
probably damaging |
Het |
| Gm5878 |
T |
C |
6: 85,095,574 (GRCm39) |
N83S |
probably benign |
Het |
| Gm8165 |
C |
T |
14: 43,913,694 (GRCm39) |
A57T |
unknown |
Het |
| Gpr179 |
A |
G |
11: 97,228,726 (GRCm39) |
V1143A |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,251,604 (GRCm39) |
Y218H |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,026,689 (GRCm39) |
N885I |
probably benign |
Het |
| Ift70a1 |
T |
A |
2: 75,811,193 (GRCm39) |
M297L |
probably benign |
Het |
| Inha |
T |
C |
1: 75,486,091 (GRCm39) |
S129P |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,230,457 (GRCm39) |
I128T |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,149 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,683,356 (GRCm39) |
E2726G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,410 (GRCm39) |
N3356D |
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,994,038 (GRCm39) |
D1008G |
possibly damaging |
Het |
| Med4 |
T |
A |
14: 73,755,415 (GRCm39) |
L241Q |
possibly damaging |
Het |
| Mtch1 |
A |
G |
17: 29,557,716 (GRCm39) |
V254A |
possibly damaging |
Het |
| Napg |
C |
T |
18: 63,127,375 (GRCm39) |
|
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
| Or5k1 |
C |
T |
16: 58,617,843 (GRCm39) |
R122H |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,449,142 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,222 (GRCm39) |
S271P |
probably damaging |
Het |
| Or9r3 |
T |
A |
10: 129,948,487 (GRCm39) |
R57S |
probably damaging |
Het |
| Pias1 |
T |
A |
9: 62,830,926 (GRCm39) |
S161C |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,830,927 (GRCm39) |
N160K |
possibly damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,020,065 (GRCm39) |
V1070E |
probably benign |
Het |
| Pramel51 |
G |
T |
12: 88,142,792 (GRCm39) |
H275Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,378,010 (GRCm39) |
T457A |
probably damaging |
Het |
| Psg23 |
G |
A |
7: 18,340,853 (GRCm39) |
A467V |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,980,146 (GRCm39) |
R13G |
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,108,336 (GRCm39) |
D248G |
probably damaging |
Het |
| Rspo1 |
A |
G |
4: 124,898,955 (GRCm39) |
N92S |
probably damaging |
Het |
| Scube1 |
G |
A |
15: 83,543,217 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,511,554 (GRCm39) |
V616F |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,881 (GRCm39) |
V435A |
probably damaging |
Het |
| Slc7a10 |
T |
A |
7: 34,897,123 (GRCm39) |
I208N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,692,420 (GRCm39) |
M2151K |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,665,235 (GRCm39) |
D50G |
probably damaging |
Het |
| Tas2r121 |
G |
T |
6: 132,677,480 (GRCm39) |
T164N |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,681,676 (GRCm39) |
W570R |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,323,628 (GRCm39) |
F600I |
probably damaging |
Het |
| Trim36 |
T |
A |
18: 46,305,669 (GRCm39) |
H426L |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,787,016 (GRCm39) |
N531Y |
possibly damaging |
Het |
| Ttc39a |
T |
C |
4: 109,299,920 (GRCm39) |
C470R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,615,283 (GRCm39) |
E8485K |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,196,122 (GRCm39) |
I1253F |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,088,688 (GRCm39) |
H1724L |
possibly damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,691,998 (GRCm39) |
C89S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
|
| Other mutations in Pigp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02100:Pigp
|
APN |
16 |
94,165,626 (GRCm39) |
nonsense |
probably null |
|
|
schweinchen
|
UTSW |
16 |
94,166,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Pigp
|
UTSW |
16 |
94,166,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3614:Pigp
|
UTSW |
16 |
94,165,583 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4872:Pigp
|
UTSW |
16 |
94,166,309 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4959:Pigp
|
UTSW |
16 |
94,160,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4973:Pigp
|
UTSW |
16 |
94,160,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5970:Pigp
|
UTSW |
16 |
94,171,053 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6135:Pigp
|
UTSW |
16 |
94,171,065 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6179:Pigp
|
UTSW |
16 |
94,171,226 (GRCm39) |
missense |
probably null |
0.99 |
|
R6732:Pigp
|
UTSW |
16 |
94,166,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Pigp
|
UTSW |
16 |
94,171,264 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8202:Pigp
|
UTSW |
16 |
94,165,528 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9234:Pigp
|
UTSW |
16 |
94,165,522 (GRCm39) |
makesense |
probably null |
|
|
R9645:Pigp
|
UTSW |
16 |
94,166,278 (GRCm39) |
nonsense |
probably null |
|
|
R9768:Pigp
|
UTSW |
16 |
94,166,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pigp
|
UTSW |
16 |
94,171,554 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation