Incidental Mutation 'PIT4434001:Fam135a'
| ID |
555041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
PIT4434001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24068276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 864
(H864Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
| AlphaFold |
Q6NS59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027337
AA Change: H864Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: H864Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
|
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1085 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
1139 |
1172 |
4e-6 |
BLAST |
|
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
1235 |
1431 |
9e-65 |
PFAM |
|
Pfam:PGAP1
|
1237 |
1440 |
3.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185807
|
| SMART Domains |
Protein: ENSMUSP00000140078
Gene: ENSMUSG00000026153
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRRNT
|
27 |
60 |
4e-7 |
BLAST |
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
104 |
161 |
2.2e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186331
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
239 |
272 |
1e-6 |
BLAST |
|
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186999
AA Change: H694Q
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
AA Change: H694Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
111 |
173 |
1.8e-15 |
PFAM |
|
Pfam:DUF3657
|
338 |
395 |
7.3e-8 |
PFAM |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187369
AA Change: H668Q
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: H668Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
111 |
173 |
3e-15 |
PFAM |
|
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
|
Pfam:DUF3657
|
312 |
369 |
1.2e-7 |
PFAM |
|
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
943 |
976 |
4e-6 |
BLAST |
|
low complexity region
|
977 |
988 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
1039 |
1235 |
6.8e-62 |
PFAM |
|
Pfam:PGAP1
|
1041 |
1259 |
8.1e-5 |
PFAM |
|
Pfam:LCAT
|
1097 |
1203 |
2.3e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187752
AA Change: H651Q
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: H651Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
68 |
130 |
3e-15 |
PFAM |
|
Pfam:DUF3657
|
295 |
352 |
1.2e-7 |
PFAM |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
|
Blast:LRRNT
|
926 |
959 |
4e-6 |
BLAST |
|
low complexity region
|
960 |
971 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
1022 |
1218 |
6.7e-62 |
PFAM |
|
Pfam:PGAP1
|
1024 |
1242 |
8e-5 |
PFAM |
|
Pfam:LCAT
|
1080 |
1186 |
2.2e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188712
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly damaging |
Het |
|
| Other mutations in Fam135a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Fam135a
|
APN |
1 |
24,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01993:Fam135a
|
APN |
1 |
24,094,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02172:Fam135a
|
APN |
1 |
24,063,861 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02832:Fam135a
|
APN |
1 |
24,067,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03075:Fam135a
|
APN |
1 |
24,069,987 (GRCm39) |
splice site |
probably benign |
|
|
IGL03197:Fam135a
|
APN |
1 |
24,083,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Fam135a
|
APN |
1 |
24,092,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Fam135a
|
APN |
1 |
24,068,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0276:Fam135a
|
UTSW |
1 |
24,107,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Fam135a
|
UTSW |
1 |
24,083,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Fam135a
|
UTSW |
1 |
24,060,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1582:Fam135a
|
UTSW |
1 |
24,068,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Fam135a
|
UTSW |
1 |
24,068,887 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1732:Fam135a
|
UTSW |
1 |
24,065,734 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1859:Fam135a
|
UTSW |
1 |
24,069,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Fam135a
|
UTSW |
1 |
24,068,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Fam135a
|
UTSW |
1 |
24,067,878 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2570:Fam135a
|
UTSW |
1 |
24,061,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Fam135a
|
UTSW |
1 |
24,096,515 (GRCm39) |
nonsense |
probably null |
|
|
R3740:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3741:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3765:Fam135a
|
UTSW |
1 |
24,094,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3792:Fam135a
|
UTSW |
1 |
24,067,392 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3940:Fam135a
|
UTSW |
1 |
24,096,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3946:Fam135a
|
UTSW |
1 |
24,069,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4754:Fam135a
|
UTSW |
1 |
24,067,835 (GRCm39) |
nonsense |
probably null |
|
|
R4794:Fam135a
|
UTSW |
1 |
24,068,241 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4887:Fam135a
|
UTSW |
1 |
24,063,334 (GRCm39) |
nonsense |
probably null |
|
|
R4891:Fam135a
|
UTSW |
1 |
24,069,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4929:Fam135a
|
UTSW |
1 |
24,069,081 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4999:Fam135a
|
UTSW |
1 |
24,059,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5092:Fam135a
|
UTSW |
1 |
24,067,888 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5205:Fam135a
|
UTSW |
1 |
24,068,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5313:Fam135a
|
UTSW |
1 |
24,067,666 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5579:Fam135a
|
UTSW |
1 |
24,068,808 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5689:Fam135a
|
UTSW |
1 |
24,068,134 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5863:Fam135a
|
UTSW |
1 |
24,053,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5869:Fam135a
|
UTSW |
1 |
24,068,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6128:Fam135a
|
UTSW |
1 |
24,069,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6505:Fam135a
|
UTSW |
1 |
24,053,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6668:Fam135a
|
UTSW |
1 |
24,067,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6793:Fam135a
|
UTSW |
1 |
24,107,006 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6857:Fam135a
|
UTSW |
1 |
24,053,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6931:Fam135a
|
UTSW |
1 |
24,124,568 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R6977:Fam135a
|
UTSW |
1 |
24,093,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Fam135a
|
UTSW |
1 |
24,083,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Fam135a
|
UTSW |
1 |
24,069,354 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7305:Fam135a
|
UTSW |
1 |
24,069,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Fam135a
|
UTSW |
1 |
24,096,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7420:Fam135a
|
UTSW |
1 |
24,051,567 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7646:Fam135a
|
UTSW |
1 |
24,067,704 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7661:Fam135a
|
UTSW |
1 |
24,111,843 (GRCm39) |
splice site |
probably null |
|
|
R7681:Fam135a
|
UTSW |
1 |
24,106,996 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7748:Fam135a
|
UTSW |
1 |
24,068,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7845:Fam135a
|
UTSW |
1 |
24,068,738 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7849:Fam135a
|
UTSW |
1 |
24,083,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7914:Fam135a
|
UTSW |
1 |
24,065,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Fam135a
|
UTSW |
1 |
24,059,729 (GRCm39) |
splice site |
probably null |
|
|
R8314:Fam135a
|
UTSW |
1 |
24,061,002 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8403:Fam135a
|
UTSW |
1 |
24,067,908 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8416:Fam135a
|
UTSW |
1 |
24,067,675 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8420:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8423:Fam135a
|
UTSW |
1 |
24,060,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8745:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8754:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8994:Fam135a
|
UTSW |
1 |
24,067,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Fam135a
|
UTSW |
1 |
24,069,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGGTCCTCAGTGCTTAAATC -3'
(R):5'- CCTTTGAGACTCTCCAAGGG -3'
Sequencing Primer
(F):5'- AGGGTCCTCAGTGCTTAAATCTAAGG -3'
(R):5'- GCCAGGTCCTTGCAATAATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation