Incidental Mutation 'R8850:Fam171a1'
ID |
674919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171a1
|
Ensembl Gene |
ENSMUSG00000050530 |
Gene Name |
family with sequence similarity 171, member A1 |
Synonyms |
9630050M13Rik |
MMRRC Submission |
068673-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R8850 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3115261-3228843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3221344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 270
(T270M)
|
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: T265M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053619 Gene: ENSMUSG00000050530 AA Change: T265M
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072955
AA Change: T145M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072724 Gene: ENSMUSG00000050530 AA Change: T145M
Domain | Start | End | E-Value | Type |
Pfam:UPF0560
|
1 |
765 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091505
AA Change: T270M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089086 Gene: ENSMUSG00000050530 AA Change: T270M
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: T270M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110751 Gene: ENSMUSG00000050530 AA Change: T270M
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: 99.0%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
G |
A |
12: 70,989,032 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
A |
G |
5: 129,219,574 (GRCm39) |
K465E |
probably benign |
Het |
Aktip |
A |
T |
8: 91,853,402 (GRCm39) |
V105E |
probably benign |
Het |
Ankrd7 |
A |
G |
6: 18,870,006 (GRCm39) |
Y253C |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,361,041 (GRCm39) |
M440T |
unknown |
Het |
Camk2b |
T |
A |
11: 5,922,838 (GRCm39) |
N426Y |
probably damaging |
Het |
Ccdc82 |
T |
A |
9: 13,289,706 (GRCm39) |
Y500* |
probably null |
Het |
Cenpe |
T |
A |
3: 134,930,777 (GRCm39) |
D341E |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,956,428 (GRCm39) |
M227K |
probably benign |
Het |
Dmbt1 |
G |
A |
7: 130,692,134 (GRCm39) |
V967I |
unknown |
Het |
Dnmt3b |
A |
T |
2: 153,515,933 (GRCm39) |
N447Y |
probably benign |
Het |
Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
Dtymk |
A |
C |
1: 93,729,543 (GRCm39) |
S3A |
probably benign |
Het |
Eefsec |
G |
A |
6: 88,423,253 (GRCm39) |
T70M |
possibly damaging |
Het |
Gm17728 |
T |
C |
17: 9,641,159 (GRCm39) |
S90P |
probably benign |
Het |
Hdlbp |
A |
G |
1: 93,359,053 (GRCm39) |
L213P |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,109,188 (GRCm39) |
I1024V |
probably benign |
Het |
Hr |
C |
T |
14: 70,799,305 (GRCm39) |
R597* |
probably null |
Het |
Ifit3 |
T |
C |
19: 34,564,988 (GRCm39) |
I178T |
probably damaging |
Het |
Ifna6 |
A |
G |
4: 88,746,222 (GRCm39) |
*190W |
probably null |
Het |
Igkv4-55 |
A |
T |
6: 69,584,315 (GRCm39) |
M99K |
probably benign |
Het |
Klk1 |
T |
A |
7: 43,877,056 (GRCm39) |
I53N |
probably damaging |
Het |
Lpcat2b |
A |
G |
5: 107,580,692 (GRCm39) |
H7R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,393,481 (GRCm39) |
P648L |
|
Het |
Mast4 |
G |
T |
13: 102,895,174 (GRCm39) |
P975H |
probably damaging |
Het |
Mfrp |
C |
T |
9: 44,013,807 (GRCm39) |
L106F |
probably benign |
Het |
Mllt10 |
T |
A |
2: 18,201,469 (GRCm39) |
S652T |
probably benign |
Het |
Mroh8 |
C |
A |
2: 157,083,673 (GRCm39) |
G400W |
probably damaging |
Het |
Neurl4 |
A |
G |
11: 69,794,788 (GRCm39) |
|
probably benign |
Het |
Nop14 |
A |
C |
5: 34,817,352 (GRCm39) |
V13G |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,217,576 (GRCm39) |
L837Q |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,092,905 (GRCm39) |
N76K |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,572 (GRCm39) |
T101S |
probably benign |
Het |
Or7g30 |
T |
C |
9: 19,352,817 (GRCm39) |
S203P |
probably damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,302 (GRCm39) |
Y218C |
probably damaging |
Het |
Pate10 |
A |
G |
9: 35,652,391 (GRCm39) |
Y16C |
probably damaging |
Het |
Pde8b |
A |
T |
13: 95,226,793 (GRCm39) |
V185E |
probably benign |
Het |
Pink1 |
G |
T |
4: 138,047,333 (GRCm39) |
A247D |
probably damaging |
Het |
Pla2g10 |
A |
T |
16: 13,545,914 (GRCm39) |
V40D |
probably damaging |
Het |
Plce1 |
G |
A |
19: 38,512,811 (GRCm39) |
G37R |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,166,439 (GRCm39) |
E826G |
possibly damaging |
Het |
Poc5 |
G |
T |
13: 96,535,228 (GRCm39) |
K164N |
possibly damaging |
Het |
Polr2b |
A |
T |
5: 77,463,761 (GRCm39) |
M53L |
probably benign |
Het |
Ppp1r10 |
C |
T |
17: 36,239,690 (GRCm39) |
P470S |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,645,840 (GRCm39) |
S510P |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,722,658 (GRCm39) |
L1073Q |
probably damaging |
Het |
Rpl13a-ps1 |
C |
T |
19: 50,018,739 (GRCm39) |
G146R |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,518,730 (GRCm39) |
D368G |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,634,248 (GRCm39) |
S86C |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,741,405 (GRCm39) |
H460R |
probably damaging |
Het |
Steap1 |
T |
A |
5: 5,790,838 (GRCm39) |
M37L |
probably benign |
Het |
Themis |
G |
T |
10: 28,673,492 (GRCm39) |
C593F |
possibly damaging |
Het |
Tnn |
A |
G |
1: 159,937,814 (GRCm39) |
|
probably null |
Het |
Trabd |
G |
T |
15: 88,969,667 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
A |
9: 97,248,047 (GRCm39) |
K216N |
probably damaging |
Het |
Trmt44 |
G |
A |
5: 35,721,673 (GRCm39) |
P497S |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,256,475 (GRCm39) |
Y15C |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,652,100 (GRCm39) |
I1458L |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,237,003 (GRCm39) |
A3E |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,704,208 (GRCm39) |
V9274L |
unknown |
Het |
Tut7 |
T |
A |
13: 59,937,011 (GRCm39) |
Q1212L |
possibly damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,428,872 (GRCm39) |
I735F |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,454 (GRCm39) |
C379R |
probably damaging |
Het |
Vmn2r97 |
G |
A |
17: 19,149,607 (GRCm39) |
E332K |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,920,732 (GRCm39) |
T1331A |
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 |
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 |
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'- GGTAATGTGACTGACTGGGC -3'
(R):5'- CCTCCATGTCAAAGTTCCAGG -3'
Sequencing Primer
(F):5'- CTATCCAGCAAGTTGTGAATGCGAC -3'
(R):5'- AGGTACTGCTCTCCACTGAC -3'
|
Posted On |
2021-07-15 |