Incidental Mutation 'R8295:Pih1d2'
| ID |
638892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pih1d2
|
| Ensembl Gene |
ENSMUSG00000000167 |
| Gene Name |
PIH1 domain containing 2 |
| Synonyms |
2700059L22Rik |
| MMRRC Submission |
067714-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R8295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50528621-50536300 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50532379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 146
(H146Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000171]
[ENSMUST00000125606]
[ENSMUST00000131351]
[ENSMUST00000132187]
[ENSMUST00000141366]
[ENSMUST00000145139]
[ENSMUST00000147671]
[ENSMUST00000151197]
[ENSMUST00000155435]
[ENSMUST00000171462]
|
| AlphaFold |
Q8CHR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000171
AA Change: H146Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: H146Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
314 |
4.1e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125606
|
| SMART Domains |
Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
140 |
2.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131351
|
| SMART Domains |
Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132187
|
| SMART Domains |
Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
92 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141366
AA Change: H162Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: H162Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
35 |
198 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147671
|
| SMART Domains |
Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151197
AA Change: H146Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: H146Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
235 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155435
|
| SMART Domains |
Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171462
|
| SMART Domains |
Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAP
|
86 |
163 |
5.2e-26 |
PFAM |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,974,188 (GRCm39) |
I915S |
probably benign |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,788,762 (GRCm39) |
M1K |
probably null |
Het |
| Akr1c12 |
T |
G |
13: 4,322,355 (GRCm39) |
D229A |
probably benign |
Het |
| Ankfn1 |
C |
T |
11: 89,302,923 (GRCm39) |
V32M |
probably benign |
Het |
| C7 |
A |
T |
15: 5,018,327 (GRCm39) |
C839S |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,416 (GRCm39) |
D769G |
probably damaging |
Het |
| Clk2 |
G |
T |
3: 89,080,766 (GRCm39) |
D251Y |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,726 (GRCm39) |
P211Q |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,100,600 (GRCm39) |
A703T |
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,085,988 (GRCm39) |
L161Q |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,789,959 (GRCm39) |
I1079V |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,262,234 (GRCm39) |
V1104A |
probably benign |
Het |
| H2-Ab1 |
A |
T |
17: 34,483,816 (GRCm39) |
Y59F |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,115,914 (GRCm39) |
T772A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,523 (GRCm39) |
V501A |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,486,184 (GRCm39) |
T70S |
probably benign |
Het |
| Obox2 |
A |
G |
7: 15,131,247 (GRCm39) |
T118A |
probably benign |
Het |
| Or52ab4 |
C |
T |
7: 102,987,474 (GRCm39) |
T71I |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,066,916 (GRCm39) |
M88V |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,305 (GRCm39) |
S73F |
possibly damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,096 (GRCm39) |
I90L |
probably benign |
Het |
| S100a16 |
T |
A |
3: 90,449,336 (GRCm39) |
C4S |
probably benign |
Het |
| Sprr1a |
T |
C |
3: 92,391,849 (GRCm39) |
K51E |
possibly damaging |
Het |
| Tmem168 |
A |
T |
6: 13,602,850 (GRCm39) |
M172K |
probably damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,797,565 (GRCm39) |
S1371P |
probably damaging |
Het |
| Trav21-dv12 |
T |
A |
14: 54,113,510 (GRCm39) |
L13* |
probably null |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,101 (GRCm39) |
V5D |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,621 (GRCm39) |
C168R |
probably damaging |
Het |
| Vmn2r90 |
C |
T |
17: 17,948,358 (GRCm39) |
P535S |
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,464,764 (GRCm39) |
C503R |
possibly damaging |
Het |
|
| Other mutations in Pih1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Pih1d2
|
APN |
9 |
50,533,177 (GRCm39) |
missense |
probably benign |
0.09 |
|
FR4449:Pih1d2
|
UTSW |
9 |
50,532,927 (GRCm39) |
frame shift |
probably null |
|
|
R0390:Pih1d2
|
UTSW |
9 |
50,532,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pih1d2
|
UTSW |
9 |
50,532,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1570:Pih1d2
|
UTSW |
9 |
50,532,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1874:Pih1d2
|
UTSW |
9 |
50,532,245 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2207:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4667:Pih1d2
|
UTSW |
9 |
50,532,252 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Pih1d2
|
UTSW |
9 |
50,529,750 (GRCm39) |
unclassified |
probably benign |
|
|
R5811:Pih1d2
|
UTSW |
9 |
50,532,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Pih1d2
|
UTSW |
9 |
50,536,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Pih1d2
|
UTSW |
9 |
50,532,452 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6416:Pih1d2
|
UTSW |
9 |
50,529,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Pih1d2
|
UTSW |
9 |
50,529,310 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7052:Pih1d2
|
UTSW |
9 |
50,533,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Pih1d2
|
UTSW |
9 |
50,536,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7661:Pih1d2
|
UTSW |
9 |
50,529,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Pih1d2
|
UTSW |
9 |
50,533,101 (GRCm39) |
missense |
not run |
|
|
R8978:Pih1d2
|
UTSW |
9 |
50,536,232 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9147:Pih1d2
|
UTSW |
9 |
50,532,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9401:Pih1d2
|
UTSW |
9 |
50,529,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGGAATCTGTCGCTTGC -3'
(R):5'- GGGCTACAAACCCAGAATCTGC -3'
Sequencing Primer
(F):5'- GAATCTGTCGCTTGCAACTTTG -3'
(R):5'- AGAATCTGCCATCACTTCATTTTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation