Incidental Mutation 'R9704:Fam149a'
| ID |
729713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam149a
|
| Ensembl Gene |
ENSMUSG00000070044 |
| Gene Name |
family with sequence similarity 149, member A |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45789754-45835328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45795502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 670
(R670W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093526]
[ENSMUST00000155230]
|
| AlphaFold |
Q8CFV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093526
AA Change: R670W
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: R670W
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: R623W
| 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 |
probably benign
Transcript: ENSMUST00000155230
AA Change: R589W
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: R589W
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
| Aass |
C |
A |
6: 23,120,887 (GRCm39) |
V126F |
possibly damaging |
Het |
| Adamts13 |
G |
T |
2: 26,895,237 (GRCm39) |
Q1109H |
|
Het |
| Ccdc57 |
A |
C |
11: 120,764,531 (GRCm39) |
V748G |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,827,387 (GRCm39) |
S31P |
possibly damaging |
Het |
| Dnah5 |
C |
G |
15: 28,247,965 (GRCm39) |
P701A |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,440,130 (GRCm39) |
T642A |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,063,579 (GRCm39) |
D646G |
probably benign |
Het |
| Gabrr2 |
G |
A |
4: 33,063,305 (GRCm39) |
V43M |
possibly damaging |
Het |
| Gli3 |
T |
A |
13: 15,898,058 (GRCm39) |
C713S |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,160,253 (GRCm39) |
|
probably null |
Het |
| Ighv2-9 |
T |
A |
12: 113,842,746 (GRCm39) |
D107V |
possibly damaging |
Het |
| Jak2 |
C |
A |
19: 29,275,730 (GRCm39) |
C723* |
probably null |
Het |
| Lcor |
T |
C |
19: 41,572,498 (GRCm39) |
S418P |
possibly damaging |
Het |
| Lnx1 |
A |
T |
5: 74,780,879 (GRCm39) |
V214E |
probably benign |
Het |
| Luzp1 |
T |
A |
4: 136,268,604 (GRCm39) |
S276T |
probably benign |
Het |
| Meig1 |
A |
G |
2: 3,410,336 (GRCm39) |
Y55H |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,071,617 (GRCm39) |
Q478L |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nxph2 |
T |
C |
2: 23,289,723 (GRCm39) |
V25A |
probably benign |
Het |
| Onecut1 |
G |
A |
9: 74,770,258 (GRCm39) |
G227D |
probably benign |
Het |
| Phf2 |
G |
T |
13: 48,959,374 (GRCm39) |
D877E |
unknown |
Het |
| Pik3cd |
C |
A |
4: 149,739,839 (GRCm39) |
R548L |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,993,905 (GRCm39) |
Q830* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,737,646 (GRCm39) |
Y2219C |
probably damaging |
Het |
| Spag11b |
A |
G |
8: 19,191,474 (GRCm39) |
N49S |
probably benign |
Het |
| Srd5a1 |
T |
A |
13: 69,743,086 (GRCm39) |
I167F |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Sv2b |
T |
G |
7: 74,797,420 (GRCm39) |
M325L |
possibly damaging |
Het |
| Tpsb2 |
A |
G |
17: 25,585,834 (GRCm39) |
I57M |
probably benign |
Het |
| Ttf2 |
T |
C |
3: 100,859,920 (GRCm39) |
E678G |
probably damaging |
Het |
| Ulk2 |
A |
G |
11: 61,716,694 (GRCm39) |
F270S |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,237,102 (GRCm39) |
V603I |
probably benign |
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 |
|
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 |
|
|
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'- CAGCTAACTAGGTCACCCTTACG -3'
(R):5'- ACTTAGGTCAGCATGAGTGGAG -3'
Sequencing Primer
(F):5'- ACGGAGGACTCACTTTTCTG -3'
(R):5'- CGTTTCTGACATGCAGCAATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation