Incidental Mutation 'R5158:Fam149a'
| ID |
396836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| MMRRC Submission |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5158 (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 G
at 45803472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 340
(I340L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
[ENSMUST00000155230]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093526
AA Change: I421L
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: I421L
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135912
AA Change: I374L
|
| SMART Domains |
Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: I374L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
228 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
259 |
324 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155230
AA Change: I340L
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: I340L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
Pfam:DUF3719
|
224 |
291 |
5.8e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
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 |
|
R3807:Fam149a
|
UTSW |
8 |
45,834,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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'- ATGCCTAGCTCTAACACTTACATG -3'
(R):5'- CTGGCATGCAAGCATTACATTC -3'
Sequencing Primer
(F):5'- GTCCTACCAAGATCTAACCTCTTTGG -3'
(R):5'- GGCATGCAAGCATTACATTCTTGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation