Incidental Mutation 'R9251:Fam171a1'
| ID |
701526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a1
|
| Ensembl Gene |
ENSMUSG00000050530 |
| Gene Name |
family with sequence similarity 171, member A1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R9251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3114224-3227806 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3225488 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 553
(S553P)
|
| 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: S548P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: S548P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0560
|
29 |
885 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072955
AA Change: S428P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: S428P
| 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: S553P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: S553P
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
G |
T |
16: 38,602,856 (GRCm38) |
N949K |
probably benign |
Het |
| Arv1 |
T |
A |
8: 124,725,323 (GRCm38) |
I76N |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,408,913 (GRCm38) |
A189T |
probably damaging |
Het |
| Ch25h |
T |
C |
19: 34,474,369 (GRCm38) |
Y253C |
probably damaging |
Het |
| Cnot11 |
T |
C |
1: 39,542,506 (GRCm38) |
M376T |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,511,581 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,121,792 (GRCm38) |
S481F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,515,793 (GRCm38) |
R541Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,582,512 (GRCm38) |
M1151I |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,907,138 (GRCm38) |
D19G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,355,592 (GRCm38) |
M212K |
probably damaging |
Het |
| Elp6 |
G |
A |
9: 110,305,598 (GRCm38) |
V12I |
unknown |
Het |
| Enox1 |
G |
A |
14: 77,615,557 (GRCm38) |
|
probably null |
Het |
| Epha1 |
G |
T |
6: 42,364,843 (GRCm38) |
N424K |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 109,145,619 (GRCm38) |
S278P |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 27,542,561 (GRCm38) |
|
probably null |
Het |
| Gm4846 |
T |
A |
1: 166,483,738 (GRCm38) |
R517S |
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,197,362 (GRCm38) |
L155P |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,966,671 (GRCm38) |
|
probably benign |
Het |
| Ik |
T |
A |
18: 36,747,442 (GRCm38) |
|
probably null |
Het |
| Insrr |
A |
T |
3: 87,810,084 (GRCm38) |
Q763L |
probably benign |
Het |
| Klf5 |
G |
T |
14: 99,301,388 (GRCm38) |
C79F |
possibly damaging |
Het |
| Lrrcc1 |
A |
T |
3: 14,558,394 (GRCm38) |
R760S |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 32,002,080 (GRCm38) |
|
probably benign |
Het |
| Mapkbp1 |
C |
T |
2: 120,023,190 (GRCm38) |
A1159V |
probably benign |
Het |
| Mgst3 |
C |
T |
1: 167,378,291 (GRCm38) |
|
probably null |
Het |
| Mtch2 |
T |
A |
2: 90,849,636 (GRCm38) |
F71I |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,368,794 (GRCm38) |
I764V |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,258,081 (GRCm38) |
L896* |
probably null |
Het |
| Ndufs5 |
T |
G |
4: 123,712,835 (GRCm38) |
E103A |
probably benign |
Het |
| Nfe2l1 |
G |
A |
11: 96,819,595 (GRCm38) |
P603S |
probably damaging |
Het |
| Olfr801 |
T |
A |
10: 129,670,111 (GRCm38) |
N136I |
possibly damaging |
Het |
| Olfr954 |
A |
T |
9: 39,462,372 (GRCm38) |
M311L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 122,492,615 (GRCm38) |
N1093S |
|
Het |
| Pitpnb |
G |
A |
5: 111,385,524 (GRCm38) |
R258H |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,268,897 (GRCm38) |
E708G |
possibly damaging |
Het |
| Plppr4 |
T |
A |
3: 117,321,959 (GRCm38) |
T750S |
probably benign |
Het |
| Prrg4 |
T |
G |
2: 104,845,054 (GRCm38) |
E68A |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,017,810 (GRCm38) |
T90M |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,377,345 (GRCm38) |
E189G |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 51,805,265 (GRCm38) |
F107S |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,821,202 (GRCm38) |
|
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,507,206 (GRCm38) |
V40D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,190,830 (GRCm38) |
|
probably null |
Het |
| Slfn1 |
T |
C |
11: 83,121,295 (GRCm38) |
F79S |
probably damaging |
Het |
| Snrpg |
G |
T |
6: 86,376,575 (GRCm38) |
V46L |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,210,405 (GRCm38) |
C508Y |
probably benign |
Het |
| Thada |
A |
T |
17: 84,231,136 (GRCm38) |
D1481E |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,860,980 (GRCm38) |
V27A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,991,696 (GRCm38) |
H300R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 124,675,253 (GRCm38) |
G589V |
probably benign |
Het |
| Ttc28 |
A |
G |
5: 110,892,832 (GRCm38) |
I29V |
possibly damaging |
Het |
| Tubb4a |
T |
A |
17: 57,080,778 (GRCm38) |
N416I |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,450,325 (GRCm38) |
I1884N |
|
Het |
| Usp16 |
A |
G |
16: 87,469,752 (GRCm38) |
K175E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,360,518 (GRCm38) |
I479M |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,636,787 (GRCm38) |
T2313A |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,841,375 (GRCm38) |
V368A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,920,881 (GRCm38) |
S701P |
probably 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 |
|
|
R3978:Fam171a1
|
UTSW |
2 |
3,225,035 (GRCm38) |
missense |
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 |
|
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'- CTGGCAATGATGACTACAGAGG -3'
(R):5'- GGAGCCTTCCTATTTCCAGCTG -3'
Sequencing Primer
(F):5'- GAGGTAGTTACAATACCGTGCTCTC -3'
(R):5'- GGCAGGCAATACTTTCCT -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation