Incidental Mutation 'R3807:Fam149a'
| ID |
274978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| MMRRC Submission |
040764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3807 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45834647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 51
(T51S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093526
AA Change: T51S
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: T51S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
305 |
370 |
4.3e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
T |
8: 112,717,002 (GRCm39) |
W2R |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,008,034 (GRCm39) |
I563T |
probably damaging |
Het |
| Armcx1 |
T |
C |
X: 133,622,014 (GRCm39) |
V372A |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,055,922 (GRCm39) |
N329K |
probably benign |
Het |
| Ccdc113 |
A |
T |
8: 96,269,281 (GRCm39) |
N193I |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,847 (GRCm39) |
L269Q |
probably damaging |
Het |
| Cttn |
C |
T |
7: 143,999,588 (GRCm39) |
V290M |
probably damaging |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,713,819 (GRCm39) |
M1455K |
possibly damaging |
Het |
| Eme1 |
A |
G |
11: 94,541,418 (GRCm39) |
W135R |
probably damaging |
Het |
| Entpd7 |
T |
G |
19: 43,713,979 (GRCm39) |
|
probably null |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Erich1 |
T |
C |
8: 14,083,695 (GRCm39) |
N125S |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,887,603 (GRCm39) |
G531D |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,560,870 (GRCm39) |
D1212E |
probably benign |
Het |
| Garin3 |
G |
A |
11: 46,295,780 (GRCm39) |
A51T |
possibly damaging |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Gm11595 |
C |
T |
11: 99,663,380 (GRCm39) |
R100H |
unknown |
Het |
| Gria1 |
T |
C |
11: 57,201,504 (GRCm39) |
W712R |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,857,557 (GRCm39) |
N4047D |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,116 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Lama2 |
GCCC |
GCC |
10: 27,066,661 (GRCm39) |
|
probably null |
Het |
| Lrrc56 |
A |
G |
7: 140,789,298 (GRCm39) |
T393A |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Med14 |
T |
C |
X: 12,553,416 (GRCm39) |
Y463C |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,515,599 (GRCm39) |
D1734V |
probably damaging |
Het |
| Nfe2l3 |
A |
T |
6: 51,434,357 (GRCm39) |
R306* |
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CCAGCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,069,791 (GRCm39) |
|
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,366,033 (GRCm39) |
V586E |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,670 (GRCm39) |
S133P |
probably benign |
Het |
| Or5h24 |
A |
C |
16: 58,919,206 (GRCm39) |
*50G |
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,367 (GRCm39) |
F559S |
probably damaging |
Het |
| Psmd12 |
T |
G |
11: 107,386,591 (GRCm39) |
D387E |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,806,027 (GRCm39) |
|
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rgs11 |
A |
T |
17: 26,422,474 (GRCm39) |
I69F |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,577 (GRCm39) |
A4277T |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,537 (GRCm39) |
V1359I |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,929 (GRCm39) |
V956E |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,978 (GRCm39) |
W302R |
probably damaging |
Het |
| Syt16 |
A |
G |
12: 74,276,172 (GRCm39) |
E212G |
possibly damaging |
Het |
| Tdp2 |
C |
A |
13: 25,015,776 (GRCm39) |
S21* |
probably null |
Het |
| Tfrc |
A |
T |
16: 32,435,644 (GRCm39) |
N173I |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,864,644 (GRCm39) |
I917F |
probably damaging |
Het |
| Vbp1 |
T |
C |
X: 74,566,948 (GRCm39) |
V122A |
probably damaging |
Het |
| Vmn1r225 |
G |
A |
17: 20,723,114 (GRCm39) |
W185* |
probably null |
Het |
| Vmn1r70 |
A |
G |
7: 10,367,715 (GRCm39) |
T68A |
probably benign |
Het |
| Zfp518a |
A |
G |
19: 40,903,241 (GRCm39) |
K1057E |
possibly damaging |
Het |
|
| Other mutations in Fam149a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Fam149a
|
APN |
8 |
45,792,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00229:Fam149a
|
APN |
8 |
45,804,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01089:Fam149a
|
APN |
8 |
45,801,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01578:Fam149a
|
APN |
8 |
45,803,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03095:Fam149a
|
APN |
8 |
45,794,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03112:Fam149a
|
APN |
8 |
45,801,580 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
guangxi
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Fam149a
|
UTSW |
8 |
45,804,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0111:Fam149a
|
UTSW |
8 |
45,794,183 (GRCm39) |
splice site |
probably benign |
|
|
R0113:Fam149a
|
UTSW |
8 |
45,794,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Fam149a
|
UTSW |
8 |
45,808,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0604:Fam149a
|
UTSW |
8 |
45,798,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Fam149a
|
UTSW |
8 |
45,808,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Fam149a
|
UTSW |
8 |
45,792,399 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Fam149a
|
UTSW |
8 |
45,834,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam149a
|
UTSW |
8 |
45,806,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Fam149a
|
UTSW |
8 |
45,794,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4176:Fam149a
|
UTSW |
8 |
45,794,321 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4913:Fam149a
|
UTSW |
8 |
45,806,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5172:Fam149a
|
UTSW |
8 |
45,797,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Fam149a
|
UTSW |
8 |
45,801,508 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6060:Fam149a
|
UTSW |
8 |
45,811,799 (GRCm39) |
intron |
probably benign |
|
|
R6426:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
probably benign |
|
|
R6590:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Fam149a
|
UTSW |
8 |
45,834,667 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6690:Fam149a
|
UTSW |
8 |
45,802,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Fam149a
|
UTSW |
8 |
45,834,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Fam149a
|
UTSW |
8 |
45,834,478 (GRCm39) |
missense |
probably benign |
|
|
R6916:Fam149a
|
UTSW |
8 |
45,803,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Fam149a
|
UTSW |
8 |
45,803,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7219:Fam149a
|
UTSW |
8 |
45,803,600 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7352:Fam149a
|
UTSW |
8 |
45,794,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Fam149a
|
UTSW |
8 |
45,801,583 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7591:Fam149a
|
UTSW |
8 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7788:Fam149a
|
UTSW |
8 |
45,834,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Fam149a
|
UTSW |
8 |
45,811,678 (GRCm39) |
missense |
|
|
|
R7915:Fam149a
|
UTSW |
8 |
45,794,280 (GRCm39) |
missense |
probably benign |
|
|
R8036:Fam149a
|
UTSW |
8 |
45,802,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Fam149a
|
UTSW |
8 |
45,834,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8239:Fam149a
|
UTSW |
8 |
45,803,490 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8246:Fam149a
|
UTSW |
8 |
45,834,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8532:Fam149a
|
UTSW |
8 |
45,801,991 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8856:Fam149a
|
UTSW |
8 |
45,834,611 (GRCm39) |
missense |
|
|
|
R8986:Fam149a
|
UTSW |
8 |
45,811,837 (GRCm39) |
missense |
|
|
|
R9448:Fam149a
|
UTSW |
8 |
45,792,411 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9704:Fam149a
|
UTSW |
8 |
45,795,502 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9794:Fam149a
|
UTSW |
8 |
45,834,449 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Fam149a
|
UTSW |
8 |
45,795,495 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTAAAGTCACTGAAGCCAC -3'
(R):5'- TAACCTCTCCAGGACCAAGG -3'
Sequencing Primer
(F):5'- GTCACTGAAGCCACTGAGC -3'
(R):5'- TCTCCAGGACCAAGGCATGAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation