Incidental Mutation 'R3978:Fam171a1'
| ID |
311105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
|
| MMRRC Submission |
040941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R3978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3114224-3227806 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3225035 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 402
(M402L)
|
| 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: M397L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: M397L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: M277L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: M277L
| 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: M402L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: M402L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
34 |
890 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 138,183,674 (GRCm38) |
T61A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,610,994 (GRCm38) |
V671A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,647,613 (GRCm38) |
H1906L |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,587,806 (GRCm38) |
V743I |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,209,634 (GRCm38) |
V236A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,363,622 (GRCm38) |
D453G |
probably damaging |
Het |
| Atp2b1 |
C |
A |
10: 98,996,933 (GRCm38) |
|
probably null |
Het |
| Azin1 |
A |
T |
15: 38,498,713 (GRCm38) |
N135K |
probably damaging |
Het |
| B020004C17Rik |
G |
T |
14: 57,017,188 (GRCm38) |
M156I |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,962,412 (GRCm38) |
T1662A |
probably benign |
Het |
| Cog8 |
T |
A |
8: 107,053,037 (GRCm38) |
I203F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,698,879 (GRCm38) |
H2094R |
probably damaging |
Het |
| Cybb |
T |
C |
X: 9,444,588 (GRCm38) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,435,163 (GRCm38) |
|
probably null |
Het |
| Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,897,088 (GRCm38) |
|
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,897,089 (GRCm38) |
|
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,592,336 (GRCm38) |
E276G |
probably damaging |
Het |
| Fga |
A |
T |
3: 83,030,183 (GRCm38) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,197,208 (GRCm38) |
|
probably benign |
Het |
| Gbp2 |
C |
T |
3: 142,629,986 (GRCm38) |
T149I |
possibly damaging |
Het |
| Gm9631 |
A |
G |
11: 121,943,568 (GRCm38) |
Y281H |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,517,850 (GRCm38) |
T136I |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,984,131 (GRCm38) |
V172M |
probably damaging |
Het |
| Gprc6a |
C |
A |
10: 51,621,101 (GRCm38) |
V449L |
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,421,351 (GRCm38) |
I535V |
probably damaging |
Het |
| Helb |
A |
G |
10: 120,089,625 (GRCm38) |
V949A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,921,240 (GRCm38) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,563,584 (GRCm38) |
T699A |
probably benign |
Het |
| Il27ra |
G |
A |
8: 84,040,684 (GRCm38) |
T170I |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,600,838 (GRCm38) |
Y456H |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,752,754 (GRCm38) |
M249T |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,668,792 (GRCm38) |
I298N |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,634,168 (GRCm38) |
R141Q |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,377,931 (GRCm38) |
D685E |
probably damaging |
Het |
| Oasl1 |
C |
T |
5: 114,932,898 (GRCm38) |
T274I |
probably damaging |
Het |
| Olfr485 |
A |
G |
7: 108,159,612 (GRCm38) |
M87T |
possibly damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,073,685 (GRCm38) |
H661L |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,830,629 (GRCm38) |
T399A |
possibly damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,192,254 (GRCm38) |
I13T |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,128,187 (GRCm38) |
M757T |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,850,075 (GRCm38) |
R19W |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,615,111 (GRCm38) |
T296A |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 33,935,162 (GRCm38) |
R472H |
probably benign |
Het |
| Rhcg |
T |
C |
7: 79,617,399 (GRCm38) |
E43G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,116,747 (GRCm38) |
|
probably null |
Het |
| Rorb |
A |
G |
19: 18,937,890 (GRCm38) |
V468A |
probably benign |
Het |
| Rxrb |
C |
T |
17: 34,036,326 (GRCm38) |
P209L |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 110,329,885 (GRCm38) |
T1438K |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,157,942 (GRCm38) |
C163S |
possibly damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,489,827 (GRCm38) |
D110N |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,465,860 (GRCm38) |
|
probably null |
Het |
| Slc5a5 |
A |
G |
8: 70,889,395 (GRCm38) |
V305A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,755,052 (GRCm38) |
M621L |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,860,348 (GRCm38) |
D301V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,035,160 (GRCm38) |
D172G |
possibly damaging |
Het |
| Syt15 |
T |
A |
14: 34,223,104 (GRCm38) |
C203S |
probably benign |
Het |
| Tdrd1 |
A |
G |
19: 56,866,634 (GRCm38) |
R1171G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,820,740 (GRCm38) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,967,247 (GRCm38) |
V30A |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,956,705 (GRCm38) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 85,232,462 (GRCm38) |
Y470F |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,653,957 (GRCm38) |
|
probably null |
Het |
| Wee1 |
G |
T |
7: 110,124,555 (GRCm38) |
D226Y |
probably damaging |
Het |
| Yap1 |
C |
T |
9: 8,004,284 (GRCm38) |
G36D |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,123,555 (GRCm38) |
I951T |
possibly damaging |
Het |
|
| Other mutations in Fam171a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Fam171a1
|
APN |
2 |
3,178,290 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01138:Fam171a1
|
APN |
2 |
3,202,620 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01317:Fam171a1
|
APN |
2 |
3,202,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02377:Fam171a1
|
APN |
2 |
3,223,586 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02475:Fam171a1
|
APN |
2 |
3,223,490 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02477:Fam171a1
|
APN |
2 |
3,202,575 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
ghosted
|
UTSW |
2 |
3,225,152 (GRCm38) |
nonsense |
probably null |
|
|
R0167:Fam171a1
|
UTSW |
2 |
3,186,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0426:Fam171a1
|
UTSW |
2 |
3,225,396 (GRCm38) |
missense |
probably benign |
|
|
R0468:Fam171a1
|
UTSW |
2 |
3,225,396 (GRCm38) |
missense |
probably benign |
|
|
R0811:Fam171a1
|
UTSW |
2 |
3,197,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0812:Fam171a1
|
UTSW |
2 |
3,197,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Fam171a1
|
UTSW |
2 |
3,225,317 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1694:Fam171a1
|
UTSW |
2 |
3,225,623 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1817:Fam171a1
|
UTSW |
2 |
3,178,373 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1869:Fam171a1
|
UTSW |
2 |
3,226,152 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1887:Fam171a1
|
UTSW |
2 |
3,220,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Fam171a1
|
UTSW |
2 |
3,225,619 (GRCm38) |
nonsense |
probably null |
|
|
R2355:Fam171a1
|
UTSW |
2 |
3,225,533 (GRCm38) |
nonsense |
probably null |
|
|
R3690:Fam171a1
|
UTSW |
2 |
3,226,356 (GRCm38) |
missense |
probably benign |
|
|
R3723:Fam171a1
|
UTSW |
2 |
3,220,375 (GRCm38) |
splice site |
probably benign |
|
|
R4087:Fam171a1
|
UTSW |
2 |
3,226,296 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4647:Fam171a1
|
UTSW |
2 |
3,220,291 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4744:Fam171a1
|
UTSW |
2 |
3,224,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Fam171a1
|
UTSW |
2 |
3,223,513 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4786:Fam171a1
|
UTSW |
2 |
3,225,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4888:Fam171a1
|
UTSW |
2 |
3,223,509 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4982:Fam171a1
|
UTSW |
2 |
3,178,468 (GRCm38) |
splice site |
probably null |
|
|
R5137:Fam171a1
|
UTSW |
2 |
3,225,389 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5203:Fam171a1
|
UTSW |
2 |
3,223,545 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5233:Fam171a1
|
UTSW |
2 |
3,178,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5304:Fam171a1
|
UTSW |
2 |
3,225,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5475:Fam171a1
|
UTSW |
2 |
3,225,297 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5682:Fam171a1
|
UTSW |
2 |
3,226,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5865:Fam171a1
|
UTSW |
2 |
3,225,337 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6322:Fam171a1
|
UTSW |
2 |
3,226,355 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7082:Fam171a1
|
UTSW |
2 |
3,223,475 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7141:Fam171a1
|
UTSW |
2 |
3,225,152 (GRCm38) |
nonsense |
probably null |
|
|
R7155:Fam171a1
|
UTSW |
2 |
3,225,729 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7243:Fam171a1
|
UTSW |
2 |
3,118,616 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7326:Fam171a1
|
UTSW |
2 |
3,226,472 (GRCm38) |
nonsense |
probably null |
|
|
R7477:Fam171a1
|
UTSW |
2 |
3,225,639 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7574:Fam171a1
|
UTSW |
2 |
3,220,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7745:Fam171a1
|
UTSW |
2 |
3,225,446 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R7753:Fam171a1
|
UTSW |
2 |
3,178,317 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7871:Fam171a1
|
UTSW |
2 |
3,225,384 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7958:Fam171a1
|
UTSW |
2 |
3,178,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8677:Fam171a1
|
UTSW |
2 |
3,220,315 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8793:Fam171a1
|
UTSW |
2 |
3,186,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8850:Fam171a1
|
UTSW |
2 |
3,220,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8865:Fam171a1
|
UTSW |
2 |
3,225,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Fam171a1
|
UTSW |
2 |
3,226,397 (GRCm38) |
missense |
probably benign |
0.43 |
|
R9090:Fam171a1
|
UTSW |
2 |
3,223,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9251:Fam171a1
|
UTSW |
2 |
3,225,488 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9271:Fam171a1
|
UTSW |
2 |
3,223,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9350:Fam171a1
|
UTSW |
2 |
3,225,000 (GRCm38) |
missense |
probably benign |
0.12 |
|
X0019:Fam171a1
|
UTSW |
2 |
3,225,593 (GRCm38) |
missense |
probably benign |
0.19 |
|
Z1177:Fam171a1
|
UTSW |
2 |
3,224,934 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGATTGGTTGCAGGAGGAAG -3'
(R):5'- ATGGTAGTCTTTCCCCAGTGTC -3'
Sequencing Primer
(F):5'- GAAGTGCTTGAAACCCCGC -3'
(R):5'- CAGTGTCCCACTTGGCGTTAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation