Incidental Mutation 'R7871:Fam171a1'
| ID |
608089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
9630050M13Rik |
| MMRRC Submission |
045923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7871 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3226421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 518
(H518R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062934]
[ENSMUST00000072955]
[ENSMUST00000091505]
[ENSMUST00000115099]
|
| AlphaFold |
A2ATK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062934
AA Change: H513R
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: H513R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: H393R
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: H393R
| 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 benign
Transcript: ENSMUST00000115099
AA Change: H518R
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: H518R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,331,092 (GRCm39) |
S1041P |
probably benign |
Het |
| Aatf |
ACACACACACACACACACACACACACACACACACACACACACACACACAC |
ACACACACACACACACACACACACACACACACACACACACACACACACACAC |
11: 84,361,864 (GRCm39) |
|
probably null |
Het |
| Arpin |
A |
T |
7: 79,577,463 (GRCm39) |
W195R |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,963,925 (GRCm39) |
V1091A |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,657,281 (GRCm39) |
T1764A |
not run |
Het |
| Bmp7 |
C |
A |
2: 172,781,784 (GRCm39) |
A27S |
probably benign |
Het |
| Ccnh |
T |
A |
13: 85,359,991 (GRCm39) |
Y297* |
probably null |
Het |
| Ccno |
C |
A |
13: 113,124,647 (GRCm39) |
D72E |
probably benign |
Het |
| Cd70 |
T |
G |
17: 57,455,770 (GRCm39) |
T67P |
probably damaging |
Het |
| Chml |
CTGTTTG |
CTG |
1: 175,514,966 (GRCm39) |
|
probably null |
Het |
| Chst4 |
A |
G |
8: 110,757,545 (GRCm39) |
F106S |
probably damaging |
Het |
| Cntnap3 |
A |
C |
13: 65,051,587 (GRCm39) |
L23R |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,814,910 (GRCm39) |
L1288H |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,777,591 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
C |
11: 46,133,177 (GRCm39) |
H841R |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,487 (GRCm39) |
P498S |
possibly damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,566,775 (GRCm39) |
I97F |
|
Het |
| Entpd3 |
A |
G |
9: 120,389,652 (GRCm39) |
R313G |
possibly damaging |
Het |
| Erg28 |
G |
A |
12: 85,866,253 (GRCm39) |
T75I |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 58,290,222 (GRCm39) |
E457G |
probably damaging |
Het |
| Glt8d1 |
A |
T |
14: 30,732,296 (GRCm39) |
H192L |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,091,165 (GRCm39) |
C472* |
probably null |
Het |
| Gm28363 |
A |
T |
1: 117,625,228 (GRCm39) |
M1L |
unknown |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gstp3 |
T |
A |
19: 4,108,746 (GRCm39) |
K45* |
probably null |
Het |
| Hsd17b13 |
A |
G |
5: 104,113,681 (GRCm39) |
F258L |
possibly damaging |
Het |
| Htt |
T |
C |
5: 35,021,993 (GRCm39) |
S1646P |
probably benign |
Het |
| Ipo11 |
T |
C |
13: 107,028,976 (GRCm39) |
M326V |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,336,153 (GRCm39) |
I2293N |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,448,750 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
A |
5: 123,922,290 (GRCm39) |
L963H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,810,637 (GRCm39) |
L769* |
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,740,346 (GRCm39) |
S558G |
probably benign |
Het |
| Mbd1 |
G |
A |
18: 74,407,128 (GRCm39) |
|
probably null |
Het |
| Mep1a |
T |
C |
17: 43,790,126 (GRCm39) |
N408D |
probably benign |
Het |
| Mtrf1 |
A |
G |
14: 79,644,378 (GRCm39) |
T229A |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,754,935 (GRCm38) |
S1603L |
unknown |
Het |
| Myo1b |
A |
C |
1: 51,818,739 (GRCm39) |
I512S |
possibly damaging |
Het |
| N4bp2 |
A |
G |
5: 65,964,446 (GRCm39) |
I832V |
probably benign |
Het |
| Nadsyn1 |
T |
A |
7: 143,352,233 (GRCm39) |
K618* |
probably null |
Het |
| Ncstn |
T |
C |
1: 171,903,023 (GRCm39) |
D87G |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,794,012 (GRCm39) |
V156A |
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,527,751 (GRCm39) |
G885V |
not run |
Het |
| Nox4 |
A |
T |
7: 86,963,335 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,860,700 (GRCm39) |
T449A |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,281 (GRCm39) |
I95V |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,540,316 (GRCm39) |
S735P |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,735 (GRCm39) |
I645T |
probably damaging |
Het |
| Rras2 |
G |
A |
7: 113,716,783 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,962,822 (GRCm39) |
M25T |
probably damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,200,883 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,429 (GRCm39) |
H280R |
not run |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
T |
C |
9: 63,053,783 (GRCm39) |
E62G |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,126,751 (GRCm39) |
N106I |
possibly damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,828 (GRCm39) |
|
probably null |
Het |
| Sppl2c |
A |
G |
11: 104,079,342 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,482 (GRCm39) |
W384R |
unknown |
Het |
| Topaz1 |
A |
G |
9: 122,609,765 (GRCm39) |
Y1111C |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,757,164 (GRCm39) |
M1157L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,578,489 (GRCm39) |
T24135A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,795,481 (GRCm39) |
E632G |
unknown |
Het |
| Ttn |
T |
C |
2: 76,547,559 (GRCm39) |
T32204A |
probably benign |
Het |
| Vmn2r109 |
T |
C |
17: 20,760,782 (GRCm39) |
I858M |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,869 (GRCm39) |
Q561L |
possibly damaging |
Het |
| Yme1l1 |
A |
G |
2: 23,071,077 (GRCm39) |
D271G |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,211,167 (GRCm39) |
F214S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,308 (GRCm39) |
I246V |
probably benign |
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 |
|
R4744:Fam171a1
|
UTSW |
2 |
3,225,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AACTTAACGCCAAGTGGGAC -3'
(R):5'- GCAATACTTTCCTGTAAACGCTGTC -3'
Sequencing Primer
(F):5'- ACCATAAGTCTGTGGAGATTTTTCCC -3'
(R):5'- GTCATTGACTTGGTCCACAGAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation