Incidental Mutation 'R1203:Fam171b'
| ID |
100238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171b
|
| Ensembl Gene |
ENSMUSG00000048388 |
| Gene Name |
family with sequence similarity 171, member B |
| Synonyms |
D430039N05Rik |
| MMRRC Submission |
039273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1203 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83643313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 74
(V74E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051454]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051454
AA Change: V74E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: V74E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
80 |
591 |
4.3e-101 |
PFAM |
|
Pfam:UPF0560
|
583 |
821 |
6.7e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 89.3%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
| Aadacl3 |
T |
C |
4: 144,190,140 (GRCm39) |
T54A |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,780 (GRCm39) |
I791T |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,359 (GRCm39) |
D299G |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,000,764 (GRCm39) |
E66G |
probably damaging |
Het |
| Atl2 |
G |
T |
17: 80,160,334 (GRCm39) |
H418N |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,908,214 (GRCm39) |
I7T |
possibly damaging |
Het |
| Calhm3 |
C |
T |
19: 47,143,839 (GRCm39) |
V155M |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,282,989 (GRCm39) |
I105K |
probably damaging |
Het |
| Csrp3 |
C |
A |
7: 48,489,278 (GRCm39) |
M1I |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,837,078 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,897,547 (GRCm39) |
N3561S |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,772,180 (GRCm39) |
D496E |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,820,797 (GRCm39) |
V246A |
probably benign |
Het |
| Gm14137 |
C |
T |
2: 119,005,605 (GRCm39) |
R55W |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,830 (GRCm39) |
I42V |
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,870 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 941,011 (GRCm39) |
S1132F |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Ncln |
A |
G |
10: 81,332,027 (GRCm39) |
V24A |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,573,289 (GRCm39) |
K76E |
probably damaging |
Het |
| Nsf |
CAATAATAATAATAATA |
CAATAATAATAATAATAATA |
11: 103,816,952 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or52h2 |
A |
T |
7: 103,839,060 (GRCm39) |
L118* |
probably null |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pcbd2 |
G |
A |
13: 55,880,881 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
A |
11: 54,582,525 (GRCm39) |
V1479D |
probably benign |
Het |
| Rnf43 |
T |
C |
11: 87,618,301 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,329,978 (GRCm39) |
W1113R |
probably damaging |
Het |
| Sall1 |
A |
T |
8: 89,758,562 (GRCm39) |
V514E |
probably damaging |
Het |
| Sgpp1 |
A |
G |
12: 75,763,056 (GRCm39) |
I375T |
probably benign |
Het |
| Strc |
T |
C |
2: 121,202,604 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,492,895 (GRCm39) |
R363W |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,366,451 (GRCm39) |
Q242R |
probably benign |
Het |
| Tbcel |
A |
C |
9: 42,362,947 (GRCm39) |
V50G |
probably damaging |
Het |
| Tead3 |
C |
T |
17: 28,560,536 (GRCm39) |
A23T |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,775 (GRCm39) |
V193A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,217,035 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
G |
T |
10: 100,312,606 (GRCm39) |
T79K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,362,281 (GRCm39) |
V241A |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,330,307 (GRCm39) |
I729F |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Fam171b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Fam171b
|
APN |
2 |
83,707,072 (GRCm39) |
nonsense |
probably null |
|
|
IGL01309:Fam171b
|
APN |
2 |
83,709,791 (GRCm39) |
nonsense |
probably null |
|
|
IGL01515:Fam171b
|
APN |
2 |
83,710,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01604:Fam171b
|
APN |
2 |
83,709,944 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01729:Fam171b
|
APN |
2 |
83,685,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL01784:Fam171b
|
APN |
2 |
83,710,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
P0028:Fam171b
|
UTSW |
2 |
83,683,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Fam171b
|
UTSW |
2 |
83,710,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Fam171b
|
UTSW |
2 |
83,710,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1564:Fam171b
|
UTSW |
2 |
83,710,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Fam171b
|
UTSW |
2 |
83,683,725 (GRCm39) |
missense |
probably benign |
|
|
R1940:Fam171b
|
UTSW |
2 |
83,643,218 (GRCm39) |
small deletion |
probably benign |
|
|
R2131:Fam171b
|
UTSW |
2 |
83,710,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3746:Fam171b
|
UTSW |
2 |
83,709,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Fam171b
|
UTSW |
2 |
83,708,605 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3840:Fam171b
|
UTSW |
2 |
83,710,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4920:Fam171b
|
UTSW |
2 |
83,710,703 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5007:Fam171b
|
UTSW |
2 |
83,685,853 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Fam171b
|
UTSW |
2 |
83,710,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Fam171b
|
UTSW |
2 |
83,683,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5544:Fam171b
|
UTSW |
2 |
83,685,871 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5614:Fam171b
|
UTSW |
2 |
83,643,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5786:Fam171b
|
UTSW |
2 |
83,708,580 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6190:Fam171b
|
UTSW |
2 |
83,707,042 (GRCm39) |
missense |
probably benign |
|
|
R6247:Fam171b
|
UTSW |
2 |
83,709,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Fam171b
|
UTSW |
2 |
83,690,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6324:Fam171b
|
UTSW |
2 |
83,709,608 (GRCm39) |
nonsense |
probably null |
|
|
R7127:Fam171b
|
UTSW |
2 |
83,710,110 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7201:Fam171b
|
UTSW |
2 |
83,708,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Fam171b
|
UTSW |
2 |
83,708,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Fam171b
|
UTSW |
2 |
83,709,732 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7904:Fam171b
|
UTSW |
2 |
83,683,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8069:Fam171b
|
UTSW |
2 |
83,643,218 (GRCm39) |
small deletion |
probably benign |
|
|
R8236:Fam171b
|
UTSW |
2 |
83,710,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8252:Fam171b
|
UTSW |
2 |
83,708,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8458:Fam171b
|
UTSW |
2 |
83,690,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8463:Fam171b
|
UTSW |
2 |
83,683,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Fam171b
|
UTSW |
2 |
83,685,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8706:Fam171b
|
UTSW |
2 |
83,690,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8792:Fam171b
|
UTSW |
2 |
83,643,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Fam171b
|
UTSW |
2 |
83,710,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Fam171b
|
UTSW |
2 |
83,710,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Fam171b
|
UTSW |
2 |
83,683,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Fam171b
|
UTSW |
2 |
83,707,028 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9532:Fam171b
|
UTSW |
2 |
83,710,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Fam171b
|
UTSW |
2 |
83,643,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9621:Fam171b
|
UTSW |
2 |
83,643,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Fam171b
|
UTSW |
2 |
83,683,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Fam171b
|
UTSW |
2 |
83,690,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF001:Fam171b
|
UTSW |
2 |
83,643,230 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Fam171b
|
UTSW |
2 |
83,643,224 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Fam171b
|
UTSW |
2 |
83,643,239 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Fam171b
|
UTSW |
2 |
83,643,217 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Fam171b
|
UTSW |
2 |
83,643,239 (GRCm39) |
small insertion |
probably benign |
|
|
RF027:Fam171b
|
UTSW |
2 |
83,643,220 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Fam171b
|
UTSW |
2 |
83,643,236 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Fam171b
|
UTSW |
2 |
83,643,236 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Fam171b
|
UTSW |
2 |
83,643,220 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Fam171b
|
UTSW |
2 |
83,643,240 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Fam171b
|
UTSW |
2 |
83,643,221 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Fam171b
|
UTSW |
2 |
83,643,240 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAATCTCCGCCTAGCTAAACGCC -3'
(R):5'- GGAAAGATTTCCCACCCGAGCAAAG -3'
Sequencing Primer
(F):5'- ATCACCTTGCAGAGCACTTG -3'
(R):5'- CAAAGAGCTAAAGGCCGAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation