Incidental Mutation 'R7127:Fam171b'
ID |
552370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171b
|
Ensembl Gene |
ENSMUSG00000048388 |
Gene Name |
family with sequence similarity 171, member B |
Synonyms |
D430039N05Rik |
MMRRC Submission |
045246-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R7127 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83710110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 594
(D594G)
|
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: D594G
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000062702 Gene: ENSMUSG00000048388 AA Change: D594G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
C |
T |
7: 119,931,825 (GRCm39) |
T26I |
probably benign |
Het |
Adam5 |
A |
T |
8: 25,300,797 (GRCm39) |
I244N |
probably damaging |
Het |
Adam7 |
A |
G |
14: 68,752,218 (GRCm39) |
|
probably null |
Het |
Aox4 |
T |
A |
1: 58,268,033 (GRCm39) |
N204K |
probably benign |
Het |
Arl13b |
C |
T |
16: 62,622,102 (GRCm39) |
G397D |
probably damaging |
Het |
AU041133 |
T |
C |
10: 81,986,700 (GRCm39) |
F118L |
probably benign |
Het |
Brinp1 |
C |
T |
4: 68,711,260 (GRCm39) |
R316H |
probably benign |
Het |
Cabcoco1 |
C |
T |
10: 68,272,160 (GRCm39) |
V268I |
probably benign |
Het |
Car15 |
T |
C |
16: 17,656,060 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,576,421 (GRCm39) |
D89E |
possibly damaging |
Het |
Cckar |
T |
A |
5: 53,863,817 (GRCm39) |
Y48F |
probably damaging |
Het |
Cdyl |
T |
A |
13: 36,040,651 (GRCm39) |
S282T |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,711,806 (GRCm39) |
T730A |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,695 (GRCm39) |
S318P |
possibly damaging |
Het |
Depdc1b |
T |
C |
13: 108,460,462 (GRCm39) |
F24S |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,430 (GRCm39) |
G565D |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,003,529 (GRCm39) |
Y1073* |
probably null |
Het |
Epg5 |
A |
T |
18: 78,072,140 (GRCm39) |
N2384I |
probably damaging |
Het |
Flad1 |
A |
G |
3: 89,310,725 (GRCm39) |
Y441H |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,636,703 (GRCm39) |
T2150A |
probably benign |
Het |
Fnta |
C |
A |
8: 26,497,231 (GRCm39) |
R206L |
probably damaging |
Het |
Gadd45b |
A |
T |
10: 80,766,999 (GRCm39) |
M95L |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,165,578 (GRCm39) |
H358Q |
probably benign |
Het |
Glipr1l3 |
C |
A |
10: 111,983,995 (GRCm39) |
G157V |
probably damaging |
Het |
Hoxc13 |
T |
C |
15: 102,829,903 (GRCm39) |
I94T |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,272,779 (GRCm39) |
D361G |
probably damaging |
Het |
Igkv3-4 |
T |
A |
6: 70,649,155 (GRCm39) |
Y51* |
probably null |
Het |
Kif26a |
C |
T |
12: 112,144,579 (GRCm39) |
P1611L |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
Lrrc8d |
T |
C |
5: 105,960,829 (GRCm39) |
V413A |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,635,774 (GRCm39) |
R86Q |
probably damaging |
Het |
Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,936 (GRCm39) |
C177S |
probably damaging |
Het |
Plk3 |
A |
T |
4: 116,987,767 (GRCm39) |
V429E |
probably benign |
Het |
Plrg1 |
C |
T |
3: 82,967,222 (GRCm39) |
P131L |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,831 (GRCm39) |
R318* |
probably null |
Het |
Rab34 |
A |
T |
11: 78,082,056 (GRCm39) |
K152* |
probably null |
Het |
Rasef |
A |
T |
4: 73,662,369 (GRCm39) |
S194T |
probably damaging |
Het |
Rcc1 |
A |
G |
4: 132,062,107 (GRCm39) |
S269P |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,229,443 (GRCm39) |
F830L |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
Scin |
A |
G |
12: 40,155,071 (GRCm39) |
I174T |
possibly damaging |
Het |
Serpinb8 |
A |
G |
1: 107,525,200 (GRCm39) |
M1V |
probably null |
Het |
Smok3c |
A |
T |
5: 138,062,971 (GRCm39) |
I153F |
probably damaging |
Het |
Spen |
G |
A |
4: 141,203,419 (GRCm39) |
S1736L |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,426,446 (GRCm39) |
M155K |
probably benign |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Sun2 |
T |
C |
15: 79,612,100 (GRCm39) |
I528M |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
Taok2 |
G |
T |
7: 126,466,326 (GRCm39) |
A831E |
possibly damaging |
Het |
Tas2r126 |
T |
C |
6: 42,411,739 (GRCm39) |
F91L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,031,922 (GRCm39) |
S279P |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,657,148 (GRCm39) |
L696H |
probably damaging |
Het |
Trank1 |
T |
G |
9: 111,194,864 (GRCm39) |
S963A |
possibly damaging |
Het |
Trf |
A |
G |
9: 103,102,326 (GRCm39) |
V184A |
probably benign |
Het |
Ttll13 |
T |
A |
7: 79,903,406 (GRCm39) |
M231K |
possibly damaging |
Het |
Tuba1a |
T |
G |
15: 98,849,455 (GRCm39) |
T41P |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,478,104 (GRCm39) |
Q3573R |
probably damaging |
Het |
Zfp141 |
G |
A |
7: 42,124,853 (GRCm39) |
H540Y |
probably damaging |
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 |
R1203:Fam171b
|
UTSW |
2 |
83,643,313 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|
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'- TTGCCATCCTTCAGACATCAG -3'
(R):5'- CCACAGGCTTTCCATCAAGAG -3'
Sequencing Primer
(F):5'- AGACCTTTTCTCCATGCCAGAG -3'
(R):5'- CCAGGAGGGTCTGCTCTGAAATTC -3'
|
Posted On |
2019-05-15 |