Incidental Mutation 'R9266:Fam171b'
ID |
702514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171b
|
Ensembl Gene |
ENSMUSG00000048388 |
Gene Name |
family with sequence similarity 171, member B |
Synonyms |
D430039N05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R9266 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83683926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 148
(W148R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051454]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051454
AA Change: W148R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062702 Gene: ENSMUSG00000048388 AA Change: W148R
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: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
A |
17: 36,270,178 (GRCm39) |
E627* |
probably null |
Het |
Aoc1l2 |
A |
G |
6: 48,907,171 (GRCm39) |
N57S |
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,006,386 (GRCm39) |
V670A |
probably benign |
Het |
Arhgef16 |
C |
A |
4: 154,375,922 (GRCm39) |
R24L |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,985,967 (GRCm39) |
D251E |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,649,271 (GRCm39) |
S447G |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,704,108 (GRCm39) |
M337V |
probably benign |
Het |
Atp8b1 |
C |
T |
18: 64,710,528 (GRCm39) |
D170N |
possibly damaging |
Het |
Azin2 |
C |
A |
4: 128,856,230 (GRCm39) |
|
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
Cdh19 |
A |
G |
1: 110,817,771 (GRCm39) |
L657P |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,372,544 (GRCm39) |
V598E |
probably damaging |
Het |
Cwc22 |
A |
G |
2: 77,754,952 (GRCm39) |
I208T |
probably benign |
Het |
Cyp4a32 |
T |
A |
4: 115,468,307 (GRCm39) |
D292E |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,845,990 (GRCm39) |
V1510I |
probably benign |
Het |
Dpp3 |
G |
T |
19: 4,964,686 (GRCm39) |
Y540* |
probably null |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Elf1 |
A |
G |
14: 79,798,290 (GRCm39) |
D59G |
probably benign |
Het |
Epc1 |
A |
T |
18: 6,449,219 (GRCm39) |
M476K |
probably benign |
Het |
Espnl |
C |
A |
1: 91,272,771 (GRCm39) |
S710R |
probably benign |
Het |
Fhod1 |
A |
G |
8: 106,065,531 (GRCm39) |
L88P |
unknown |
Het |
Frmd4a |
A |
G |
2: 4,610,846 (GRCm39) |
S999G |
probably damaging |
Het |
Glmp |
T |
C |
3: 88,233,036 (GRCm39) |
I58T |
probably damaging |
Het |
Gm45861 |
T |
A |
8: 28,074,674 (GRCm39) |
D1341E |
unknown |
Het |
Gpr179 |
A |
G |
11: 97,227,766 (GRCm39) |
I1463T |
probably benign |
Het |
Gsdmc2 |
T |
C |
15: 63,698,088 (GRCm39) |
E339G |
probably damaging |
Het |
Insm1 |
A |
T |
2: 146,064,933 (GRCm39) |
I250F |
probably damaging |
Het |
Insm1 |
G |
A |
2: 146,064,943 (GRCm39) |
G253D |
possibly damaging |
Het |
Itih1 |
A |
T |
14: 30,652,222 (GRCm39) |
S824T |
probably damaging |
Het |
Lactb |
A |
G |
9: 66,878,499 (GRCm39) |
Y190H |
possibly damaging |
Het |
Lrba |
T |
C |
3: 86,198,774 (GRCm39) |
M197T |
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,459,853 (GRCm39) |
I160V |
probably benign |
Het |
Lrrc59 |
A |
T |
11: 94,532,044 (GRCm39) |
|
probably null |
Het |
Ltk |
A |
T |
2: 119,585,121 (GRCm39) |
M425K |
possibly damaging |
Het |
Map9 |
T |
C |
3: 82,278,594 (GRCm39) |
V198A |
possibly damaging |
Het |
Mms22l |
T |
C |
4: 24,578,878 (GRCm39) |
Y746H |
probably damaging |
Het |
Ms4a4b |
A |
G |
19: 11,432,060 (GRCm39) |
I60M |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,480,065 (GRCm39) |
W44R |
probably benign |
Het |
Nadsyn1 |
A |
T |
7: 143,369,348 (GRCm39) |
W128R |
probably damaging |
Het |
Nrcam |
G |
A |
12: 44,636,917 (GRCm39) |
A1117T |
probably damaging |
Het |
Ntng1 |
G |
A |
3: 110,050,923 (GRCm39) |
|
probably benign |
Het |
Ntng1 |
A |
G |
3: 110,051,162 (GRCm39) |
F56L |
unknown |
Het |
Oas2 |
A |
T |
5: 120,887,637 (GRCm39) |
Y68N |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,854 (GRCm39) |
F222I |
possibly damaging |
Het |
Or5b101 |
A |
C |
19: 13,005,648 (GRCm39) |
L15R |
probably damaging |
Het |
Or6c6c |
T |
C |
10: 129,541,547 (GRCm39) |
S267P |
probably benign |
Het |
Pals2 |
T |
C |
6: 50,140,463 (GRCm39) |
M161T |
probably benign |
Het |
Paqr8 |
C |
T |
1: 21,005,863 (GRCm39) |
T339I |
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,881,814 (GRCm39) |
E525G |
probably benign |
Het |
Psg28 |
T |
G |
7: 18,161,752 (GRCm39) |
L250F |
probably benign |
Het |
S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
Slc16a4 |
A |
T |
3: 107,199,788 (GRCm39) |
T12S |
probably benign |
Het |
Slc9b1 |
A |
G |
3: 135,054,468 (GRCm39) |
|
probably benign |
Het |
Slit3 |
T |
C |
11: 35,598,808 (GRCm39) |
S1471P |
probably damaging |
Het |
Smpdl3a |
T |
C |
10: 57,678,596 (GRCm39) |
V133A |
possibly damaging |
Het |
Snap23 |
C |
T |
2: 120,414,781 (GRCm39) |
|
probably benign |
Het |
Spp2 |
A |
G |
1: 88,344,975 (GRCm39) |
M146V |
probably benign |
Het |
Syf2 |
C |
A |
4: 134,663,321 (GRCm39) |
N164K |
possibly damaging |
Het |
Sync |
T |
G |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
Tex56 |
A |
G |
13: 35,116,569 (GRCm39) |
K106R |
possibly damaging |
Het |
Tmigd3 |
T |
C |
3: 105,824,216 (GRCm39) |
F62L |
probably benign |
Het |
Trpa1 |
C |
T |
1: 14,980,953 (GRCm39) |
|
probably null |
Het |
U2surp |
A |
T |
9: 95,366,468 (GRCm39) |
I480N |
probably damaging |
Het |
Usf3 |
C |
T |
16: 44,040,095 (GRCm39) |
T1525I |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,024,057 (GRCm39) |
I841M |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,738,007 (GRCm39) |
Q868L |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,828,385 (GRCm39) |
E309G |
possibly 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 |
|
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 |
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'- ATGACATCGTCAGTCGCCAG -3'
(R):5'- TGTGTCAACCTGAATTTCACCACC -3'
Sequencing Primer
(F):5'- ATCGTCAGTCGCCAGTACCTG -3'
(R):5'- CTCCAGAACTGTATGGAATCGCTG -3'
|
Posted On |
2022-03-25 |