Incidental Mutation 'R4744:Fam171a1'
| ID |
356548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
9630050M13Rik |
| MMRRC Submission |
042027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3225946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 360
(S360P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062934
AA Change: S355P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: S355P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072955
AA Change: S235P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: S235P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091505
|
| SMART Domains |
Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
294 |
3.1e-146 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115099
AA Change: S360P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: S360P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.7976 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,017,617 (GRCm39) |
S143P |
possibly damaging |
Het |
| 4933427D14Rik |
T |
C |
11: 72,066,365 (GRCm39) |
K614E |
probably damaging |
Het |
| Aatk |
A |
G |
11: 119,906,948 (GRCm39) |
M155T |
possibly damaging |
Het |
| Acvr2b |
T |
C |
9: 119,260,328 (GRCm39) |
L333P |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,128,699 (GRCm39) |
E865G |
probably damaging |
Het |
| Add2 |
A |
G |
6: 86,087,870 (GRCm39) |
S358G |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,072 (GRCm39) |
|
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,344,604 (GRCm39) |
W49* |
probably null |
Het |
| AU015228 |
A |
T |
2: 129,942,549 (GRCm39) |
|
noncoding transcript |
Het |
| Bank1 |
G |
T |
3: 135,953,450 (GRCm39) |
R102S |
probably benign |
Het |
| Brap |
T |
A |
5: 121,800,193 (GRCm39) |
D27E |
probably damaging |
Het |
| Cyb5r2 |
G |
T |
7: 107,349,484 (GRCm39) |
H276N |
possibly damaging |
Het |
| Dhh |
A |
G |
15: 98,792,139 (GRCm39) |
F290L |
possibly damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,699,025 (GRCm39) |
N319I |
possibly damaging |
Het |
| Ebpl |
A |
G |
14: 61,597,682 (GRCm39) |
V53A |
probably damaging |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Etnk1 |
A |
C |
6: 143,132,319 (GRCm39) |
N220T |
probably damaging |
Het |
| F11r |
T |
A |
1: 171,288,166 (GRCm39) |
V64D |
probably benign |
Het |
| Fignl1 |
A |
G |
11: 11,751,585 (GRCm39) |
M490T |
probably damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,265 (GRCm39) |
M75K |
probably benign |
Het |
| Fzd7 |
T |
A |
1: 59,523,595 (GRCm39) |
F493I |
possibly damaging |
Het |
| Galnt14 |
G |
T |
17: 73,814,828 (GRCm39) |
P412T |
probably damaging |
Het |
| Gcg |
T |
A |
2: 62,308,975 (GRCm39) |
S60C |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,421,733 (GRCm39) |
K527E |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,758,153 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9972 |
A |
G |
11: 42,927,517 (GRCm39) |
K55E |
unknown |
Het |
| Gpr141 |
T |
A |
13: 19,935,884 (GRCm39) |
D297V |
probably benign |
Het |
| Grin2b |
G |
A |
6: 135,755,697 (GRCm39) |
S539L |
probably damaging |
Het |
| Hhipl1 |
A |
T |
12: 108,286,238 (GRCm39) |
N515I |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,453,363 (GRCm39) |
E5317D |
probably damaging |
Het |
| Hsf5 |
T |
A |
11: 87,513,617 (GRCm39) |
N227K |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,910,196 (GRCm39) |
D129E |
probably benign |
Het |
| Invs |
T |
C |
4: 48,397,609 (GRCm39) |
F339L |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,239,656 (GRCm39) |
S17T |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,844,501 (GRCm39) |
I166F |
probably benign |
Het |
| Nck1 |
T |
C |
9: 100,388,797 (GRCm39) |
I6V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,040,589 (GRCm39) |
D6624G |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,661 (GRCm39) |
Y17H |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,964,310 (GRCm39) |
L1298P |
probably damaging |
Het |
| Ocel1 |
A |
G |
8: 71,825,397 (GRCm39) |
E161G |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,991 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
A |
G |
18: 39,907,881 (GRCm39) |
Y382C |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,921,594 (GRCm39) |
|
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,872,641 (GRCm39) |
V147D |
probably benign |
Het |
| Pigz |
A |
T |
16: 31,764,151 (GRCm39) |
H403L |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,833,769 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,031,451 (GRCm39) |
L558P |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,380 (GRCm39) |
R322H |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,174,658 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
T |
C |
7: 28,476,438 (GRCm39) |
F26L |
probably damaging |
Het |
| Slc1a1 |
A |
T |
19: 28,871,925 (GRCm39) |
T133S |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,568,214 (GRCm39) |
I84V |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,286 (GRCm39) |
K489* |
probably null |
Het |
| Slc6a9 |
A |
T |
4: 117,725,092 (GRCm39) |
Q562L |
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,167,773 (GRCm39) |
Q25* |
probably null |
Het |
| St6galnac6 |
A |
G |
2: 32,508,555 (GRCm39) |
I231V |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,526,604 (GRCm39) |
T954A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,472,069 (GRCm39) |
M443V |
possibly damaging |
Het |
| Sv2b |
T |
C |
7: 74,856,266 (GRCm39) |
D8G |
probably benign |
Het |
| Tapbpl |
G |
A |
6: 125,205,248 (GRCm39) |
R233W |
probably damaging |
Het |
| Tex10 |
A |
G |
4: 48,469,990 (GRCm39) |
L25S |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,794 (GRCm39) |
V1254D |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,310,639 (GRCm39) |
I307N |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,839,126 (GRCm39) |
D575G |
probably damaging |
Het |
| Usf2 |
A |
T |
7: 30,654,197 (GRCm39) |
D166E |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,911,877 (GRCm39) |
L969M |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,885,219 (GRCm39) |
P1276L |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,956,447 (GRCm39) |
E58D |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,011,598 (GRCm39) |
C40F |
probably damaging |
Het |
|
| Other mutations in Fam171a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Fam171a1
|
APN |
2 |
3,179,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01138:Fam171a1
|
APN |
2 |
3,203,657 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01317:Fam171a1
|
APN |
2 |
3,203,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Fam171a1
|
APN |
2 |
3,224,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02475:Fam171a1
|
APN |
2 |
3,224,527 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02477:Fam171a1
|
APN |
2 |
3,203,612 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
ghosted
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
|
R0167:Fam171a1
|
UTSW |
2 |
3,187,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
|
R0468:Fam171a1
|
UTSW |
2 |
3,226,433 (GRCm39) |
missense |
probably benign |
|
|
R0811:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Fam171a1
|
UTSW |
2 |
3,198,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1099:Fam171a1
|
UTSW |
2 |
3,226,354 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1694:Fam171a1
|
UTSW |
2 |
3,226,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Fam171a1
|
UTSW |
2 |
3,179,410 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1869:Fam171a1
|
UTSW |
2 |
3,227,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1887:Fam171a1
|
UTSW |
2 |
3,221,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Fam171a1
|
UTSW |
2 |
3,226,656 (GRCm39) |
nonsense |
probably null |
|
|
R2355:Fam171a1
|
UTSW |
2 |
3,226,570 (GRCm39) |
nonsense |
probably null |
|
|
R3690:Fam171a1
|
UTSW |
2 |
3,227,393 (GRCm39) |
missense |
probably benign |
|
|
R3723:Fam171a1
|
UTSW |
2 |
3,221,412 (GRCm39) |
splice site |
probably benign |
|
|
R3978:Fam171a1
|
UTSW |
2 |
3,226,072 (GRCm39) |
missense |
probably benign |
|
|
R4087:Fam171a1
|
UTSW |
2 |
3,227,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4647:Fam171a1
|
UTSW |
2 |
3,221,328 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4777:Fam171a1
|
UTSW |
2 |
3,224,550 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4786:Fam171a1
|
UTSW |
2 |
3,226,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Fam171a1
|
UTSW |
2 |
3,224,546 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4982:Fam171a1
|
UTSW |
2 |
3,179,505 (GRCm39) |
splice site |
probably null |
|
|
R5137:Fam171a1
|
UTSW |
2 |
3,226,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5203:Fam171a1
|
UTSW |
2 |
3,224,582 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5233:Fam171a1
|
UTSW |
2 |
3,179,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Fam171a1
|
UTSW |
2 |
3,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Fam171a1
|
UTSW |
2 |
3,226,334 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5682:Fam171a1
|
UTSW |
2 |
3,227,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Fam171a1
|
UTSW |
2 |
3,226,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6322:Fam171a1
|
UTSW |
2 |
3,227,392 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7082:Fam171a1
|
UTSW |
2 |
3,224,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7141:Fam171a1
|
UTSW |
2 |
3,226,189 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Fam171a1
|
UTSW |
2 |
3,226,766 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7243:Fam171a1
|
UTSW |
2 |
3,119,653 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7326:Fam171a1
|
UTSW |
2 |
3,227,509 (GRCm39) |
nonsense |
probably null |
|
|
R7477:Fam171a1
|
UTSW |
2 |
3,226,676 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7574:Fam171a1
|
UTSW |
2 |
3,221,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Fam171a1
|
UTSW |
2 |
3,226,483 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7753:Fam171a1
|
UTSW |
2 |
3,179,354 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7871:Fam171a1
|
UTSW |
2 |
3,226,421 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7958:Fam171a1
|
UTSW |
2 |
3,179,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Fam171a1
|
UTSW |
2 |
3,221,352 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8793:Fam171a1
|
UTSW |
2 |
3,187,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Fam171a1
|
UTSW |
2 |
3,221,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Fam171a1
|
UTSW |
2 |
3,226,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Fam171a1
|
UTSW |
2 |
3,227,434 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9090:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Fam171a1
|
UTSW |
2 |
3,226,525 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9271:Fam171a1
|
UTSW |
2 |
3,224,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Fam171a1
|
UTSW |
2 |
3,226,037 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0019:Fam171a1
|
UTSW |
2 |
3,226,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Fam171a1
|
UTSW |
2 |
3,225,971 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCGAGAAGGCTTCTTC -3'
(R):5'- ACTATAGGAGAGCTTCAGCATGG -3'
Sequencing Primer
(F):5'- GCTGATAAATTGTATTGGTGTTCCTC -3'
(R):5'- AGAGCTTCAGCATGGGTGTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation