Incidental Mutation 'R0590:Fam160a1'
| ID |
55914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam160a1
|
| Ensembl Gene |
ENSMUSG00000051000 |
| Gene Name |
family with sequence similarity 160, member A1 |
| Synonyms |
9930021J17Rik |
| MMRRC Submission |
038780-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0590 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
85660061-85817291 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85672376 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 841
(R841G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094148]
[ENSMUST00000118408]
[ENSMUST00000119077]
[ENSMUST00000154148]
|
| AlphaFold |
Q505K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094148
AA Change: R841G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091700
Gene: ENSMUSG00000051000
AA Change: R841G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
88 |
411 |
1.2e-102 |
PFAM |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118408
AA Change: R841G
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113235
Gene: ENSMUSG00000051000
AA Change: R841G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RAI16-like
|
88 |
411 |
1.1e-98 |
PFAM |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119077
|
| SMART Domains |
Protein: ENSMUSP00000112705
Gene: ENSMUSG00000051000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154148
|
| SMART Domains |
Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
| Domain | Start | End | E-Value | Type |
|---|
|
Arfaptin
|
1 |
227 |
7.15e-121 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
C |
T |
4: 49,383,273 (GRCm38) |
M93I |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,800,954 (GRCm38) |
D196G |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,548,153 (GRCm38) |
|
probably null |
Het |
| AI661453 |
A |
G |
17: 47,467,074 (GRCm38) |
|
probably benign |
Het |
| Apc |
G |
T |
18: 34,316,230 (GRCm38) |
E2026* |
probably null |
Het |
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,245,007 (GRCm38) |
|
probably benign |
Het |
| BC017158 |
A |
G |
7: 128,297,470 (GRCm38) |
L134P |
probably damaging |
Het |
| Cad |
T |
C |
5: 31,062,231 (GRCm38) |
S688P |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,931,341 (GRCm38) |
R345* |
probably null |
Het |
| Dcaf13 |
T |
A |
15: 39,145,085 (GRCm38) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,363,136 (GRCm38) |
D607G |
probably benign |
Het |
| Gli1 |
G |
T |
10: 127,331,563 (GRCm38) |
A607E |
possibly damaging |
Het |
| Gls |
G |
A |
1: 52,212,375 (GRCm38) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,289,409 (GRCm38) |
Q728H |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,135,694 (GRCm38) |
L198P |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,603,942 (GRCm38) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 120,944,357 (GRCm38) |
V954A |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 74,965,261 (GRCm38) |
A628D |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,482,472 (GRCm38) |
S646P |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 79,045,140 (GRCm38) |
S133P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,137,290 (GRCm38) |
M7143V |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 33,901,825 (GRCm38) |
P229S |
probably damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,571,199 (GRCm38) |
T169A |
probably damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,456,567 (GRCm38) |
Y398H |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,564,032 (GRCm38) |
E511G |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,397,751 (GRCm38) |
R172W |
probably damaging |
Het |
| Olfr1130 |
A |
G |
2: 87,607,994 (GRCm38) |
E202G |
probably damaging |
Het |
| Olfr26 |
T |
A |
9: 38,855,470 (GRCm38) |
M136K |
probably damaging |
Het |
| Olfr27 |
T |
C |
9: 39,144,721 (GRCm38) |
V207A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,961,578 (GRCm38) |
V405I |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,360,223 (GRCm38) |
R238H |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,317,926 (GRCm38) |
E1240G |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,797,761 (GRCm38) |
I899T |
possibly damaging |
Het |
| Psip1 |
T |
C |
4: 83,458,144 (GRCm38) |
N486S |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,170,833 (GRCm38) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 88,979,635 (GRCm38) |
S255P |
probably damaging |
Het |
| Sema6c |
A |
G |
3: 95,172,623 (GRCm38) |
K711E |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,190,893 (GRCm38) |
|
probably benign |
Het |
| Trim36 |
T |
G |
18: 46,172,576 (GRCm38) |
S435R |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 83,291,603 (GRCm38) |
|
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,361,014 (GRCm38) |
Y122C |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,926,364 (GRCm38) |
V143A |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 33,041,174 (GRCm38) |
Q2166L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,776,998 (GRCm38) |
T346M |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,402,633 (GRCm38) |
V2617D |
probably damaging |
Het |
|
| Other mutations in Fam160a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Fam160a1
|
APN |
3 |
85,672,618 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01102:Fam160a1
|
APN |
3 |
85,665,501 (GRCm38) |
intron |
probably benign |
|
|
IGL01317:Fam160a1
|
APN |
3 |
85,672,846 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01759:Fam160a1
|
APN |
3 |
85,688,447 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02007:Fam160a1
|
APN |
3 |
85,722,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02037:Fam160a1
|
APN |
3 |
85,730,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02163:Fam160a1
|
APN |
3 |
85,688,552 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02192:Fam160a1
|
APN |
3 |
85,673,326 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02617:Fam160a1
|
APN |
3 |
85,673,037 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4378001:Fam160a1
|
UTSW |
3 |
85,730,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Fam160a1
|
UTSW |
3 |
85,672,472 (GRCm38) |
nonsense |
probably null |
|
|
PIT4651001:Fam160a1
|
UTSW |
3 |
85,683,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0625:Fam160a1
|
UTSW |
3 |
85,730,500 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R0648:Fam160a1
|
UTSW |
3 |
85,730,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0931:Fam160a1
|
UTSW |
3 |
85,673,243 (GRCm38) |
missense |
probably benign |
|
|
R0940:Fam160a1
|
UTSW |
3 |
85,665,490 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0941:Fam160a1
|
UTSW |
3 |
85,673,059 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1115:Fam160a1
|
UTSW |
3 |
85,722,495 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1161:Fam160a1
|
UTSW |
3 |
85,672,468 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1460:Fam160a1
|
UTSW |
3 |
85,730,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1503:Fam160a1
|
UTSW |
3 |
85,672,477 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1545:Fam160a1
|
UTSW |
3 |
85,665,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1820:Fam160a1
|
UTSW |
3 |
85,665,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Fam160a1
|
UTSW |
3 |
85,672,633 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1911:Fam160a1
|
UTSW |
3 |
85,661,218 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1928:Fam160a1
|
UTSW |
3 |
85,688,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2200:Fam160a1
|
UTSW |
3 |
85,730,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2235:Fam160a1
|
UTSW |
3 |
85,661,101 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2373:Fam160a1
|
UTSW |
3 |
85,676,097 (GRCm38) |
nonsense |
probably null |
|
|
R3084:Fam160a1
|
UTSW |
3 |
85,665,968 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4125:Fam160a1
|
UTSW |
3 |
85,665,383 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4601:Fam160a1
|
UTSW |
3 |
85,741,180 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4612:Fam160a1
|
UTSW |
3 |
85,730,372 (GRCm38) |
nonsense |
probably null |
|
|
R4665:Fam160a1
|
UTSW |
3 |
85,730,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4673:Fam160a1
|
UTSW |
3 |
85,730,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Fam160a1
|
UTSW |
3 |
85,688,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4783:Fam160a1
|
UTSW |
3 |
85,688,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4785:Fam160a1
|
UTSW |
3 |
85,688,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4825:Fam160a1
|
UTSW |
3 |
85,673,432 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4884:Fam160a1
|
UTSW |
3 |
85,683,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5653:Fam160a1
|
UTSW |
3 |
85,722,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5663:Fam160a1
|
UTSW |
3 |
85,672,433 (GRCm38) |
missense |
probably benign |
|
|
R5764:Fam160a1
|
UTSW |
3 |
85,665,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6134:Fam160a1
|
UTSW |
3 |
85,673,344 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6284:Fam160a1
|
UTSW |
3 |
85,672,688 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6789:Fam160a1
|
UTSW |
3 |
85,672,558 (GRCm38) |
nonsense |
probably null |
|
|
R6843:Fam160a1
|
UTSW |
3 |
85,673,045 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7305:Fam160a1
|
UTSW |
3 |
85,730,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7406:Fam160a1
|
UTSW |
3 |
85,730,477 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7448:Fam160a1
|
UTSW |
3 |
85,672,564 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7469:Fam160a1
|
UTSW |
3 |
85,672,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7578:Fam160a1
|
UTSW |
3 |
85,665,898 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7707:Fam160a1
|
UTSW |
3 |
85,676,253 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8071:Fam160a1
|
UTSW |
3 |
85,730,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8093:Fam160a1
|
UTSW |
3 |
85,672,804 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8151:Fam160a1
|
UTSW |
3 |
85,688,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8391:Fam160a1
|
UTSW |
3 |
85,688,481 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8406:Fam160a1
|
UTSW |
3 |
85,672,720 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8774:Fam160a1
|
UTSW |
3 |
85,672,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8774-TAIL:Fam160a1
|
UTSW |
3 |
85,672,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8843:Fam160a1
|
UTSW |
3 |
85,661,011 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9079:Fam160a1
|
UTSW |
3 |
85,672,283 (GRCm38) |
nonsense |
probably null |
|
|
R9277:Fam160a1
|
UTSW |
3 |
85,672,258 (GRCm38) |
missense |
probably benign |
0.25 |
|
R9302:Fam160a1
|
UTSW |
3 |
85,672,634 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9324:Fam160a1
|
UTSW |
3 |
85,730,746 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9494:Fam160a1
|
UTSW |
3 |
85,676,258 (GRCm38) |
nonsense |
probably null |
|
|
R9516:Fam160a1
|
UTSW |
3 |
85,673,252 (GRCm38) |
nonsense |
probably null |
|
|
R9638:Fam160a1
|
UTSW |
3 |
85,661,084 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9654:Fam160a1
|
UTSW |
3 |
85,672,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Fam160a1
|
UTSW |
3 |
85,673,201 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCACCTGTGAACGGCGTACTC -3'
(R):5'- TCAGAACACGTTCTCAGAAGCCAAG -3'
Sequencing Primer
(F):5'- TACTCTGAGTCCTCACGGGATG -3'
(R):5'- AGCCTTAGCATTAGACTCGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation