Incidental Mutation 'R8458:Fam171b'
| ID |
655096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171b
|
| Ensembl Gene |
ENSMUSG00000048388 |
| Gene Name |
family with sequence similarity 171, member B |
| Synonyms |
D430039N05Rik |
| MMRRC Submission |
067835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8458 (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 83690864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 276
(T276A)
|
| 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: T276A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: T276A
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,251,521 (GRCm39) |
H422L |
probably benign |
Het |
| Adgra3 |
G |
T |
5: 50,145,013 (GRCm39) |
P527T |
probably damaging |
Het |
| Afg1l |
A |
G |
10: 42,302,517 (GRCm39) |
V161A |
probably damaging |
Het |
| Als2cl |
A |
C |
9: 110,714,025 (GRCm39) |
E65A |
probably damaging |
Het |
| Arl3 |
A |
C |
19: 46,546,709 (GRCm39) |
S39A |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,276,087 (GRCm39) |
V560A |
probably damaging |
Het |
| Ccr10 |
C |
T |
11: 101,064,982 (GRCm39) |
G183R |
probably damaging |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Chkb |
A |
T |
15: 89,312,376 (GRCm39) |
V213E |
possibly damaging |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| Crx |
C |
A |
7: 15,602,031 (GRCm39) |
A216S |
possibly damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,444,287 (GRCm39) |
D556G |
probably damaging |
Het |
| Cyp4a14 |
C |
A |
4: 115,353,129 (GRCm39) |
G61V |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,739,550 (GRCm39) |
F157L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,548,849 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
C |
1: 181,633,577 (GRCm39) |
H4P |
|
Het |
| Dnah7a |
T |
C |
1: 53,657,142 (GRCm39) |
D878G |
probably benign |
Het |
| Epb41l1 |
C |
T |
2: 156,363,684 (GRCm39) |
T731I |
probably benign |
Het |
| Epg5 |
G |
C |
18: 77,991,946 (GRCm39) |
E214D |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,035,702 (GRCm39) |
R3118H |
probably benign |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,794,509 (GRCm39) |
V187A |
possibly damaging |
Het |
| Gins1 |
T |
C |
2: 150,772,807 (GRCm39) |
V190A |
probably benign |
Het |
| Gm17067 |
T |
C |
7: 42,358,155 (GRCm39) |
S116G |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,553,862 (GRCm39) |
V250A |
probably benign |
Het |
| Gpr85 |
T |
C |
6: 13,836,848 (GRCm39) |
T19A |
probably benign |
Het |
| Hepacam2 |
T |
C |
6: 3,483,358 (GRCm39) |
N217S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,845,377 (GRCm39) |
Y889H |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,135,464 (GRCm39) |
R1822S |
possibly damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,754,407 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,874,933 (GRCm39) |
S11P |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,201,109 (GRCm39) |
G216R |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,901 (GRCm39) |
D167G |
probably damaging |
Het |
| Larp1b |
A |
C |
3: 40,930,995 (GRCm39) |
E291D |
probably benign |
Het |
| Lats1 |
T |
A |
10: 7,586,688 (GRCm39) |
L950* |
probably null |
Het |
| Lrrc2 |
A |
C |
9: 110,799,218 (GRCm39) |
D255A |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,505,456 (GRCm39) |
M605K |
probably benign |
Het |
| Mocos |
A |
G |
18: 24,799,314 (GRCm39) |
K183E |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,301,213 (GRCm39) |
|
probably null |
Het |
| Mroh9 |
T |
A |
1: 162,883,250 (GRCm39) |
T410S |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,375,024 (GRCm39) |
E430G |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,034,863 (GRCm39) |
T252A |
probably benign |
Het |
| Ntrk1 |
C |
A |
3: 87,698,976 (GRCm39) |
|
probably null |
Het |
| Nts |
G |
T |
10: 102,320,921 (GRCm39) |
T56N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,874 (GRCm39) |
D1276G |
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,647,494 (GRCm39) |
V269F |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,875 (GRCm39) |
A229S |
possibly damaging |
Het |
| Or5b105 |
T |
C |
19: 13,079,840 (GRCm39) |
Y276C |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,113,177 (GRCm39) |
S535G |
possibly damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,550 (GRCm39) |
I66V |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,599,843 (GRCm39) |
V547A |
probably damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,465,590 (GRCm39) |
L185S |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,608,540 (GRCm39) |
|
probably null |
Het |
| Ptgdr2 |
A |
T |
19: 10,917,785 (GRCm39) |
T101S |
possibly damaging |
Het |
| Ptprd |
T |
C |
4: 75,984,496 (GRCm39) |
D550G |
probably benign |
Het |
| Ptx3 |
G |
T |
3: 66,128,419 (GRCm39) |
R160L |
probably benign |
Het |
| Rdh16f1 |
A |
C |
10: 127,624,714 (GRCm39) |
E184A |
probably damaging |
Het |
| Rfx3 |
C |
T |
19: 27,771,072 (GRCm39) |
E560K |
possibly damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,436,779 (GRCm39) |
Q111R |
probably benign |
Het |
| Spart |
A |
G |
3: 55,032,315 (GRCm39) |
D383G |
probably damaging |
Het |
| Stpg3 |
C |
A |
2: 25,103,333 (GRCm39) |
R252L |
probably damaging |
Het |
| Tcp11l2 |
C |
T |
10: 84,449,396 (GRCm39) |
Q454* |
probably null |
Het |
| Trav10d |
A |
G |
14: 53,048,780 (GRCm39) |
Y57C |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,321 (GRCm39) |
M241K |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,302,332 (GRCm39) |
N1000K |
probably damaging |
Het |
| Wdsub1 |
T |
C |
2: 59,692,045 (GRCm39) |
E329G |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,147 (GRCm39) |
C891* |
probably null |
Het |
| Zdhhc16 |
G |
T |
19: 41,928,093 (GRCm39) |
C204F |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,559 (GRCm39) |
I259V |
possibly damaging |
Het |
| Zranb3 |
G |
T |
1: 127,920,647 (GRCm39) |
Q426K |
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 |
|
|
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 |
|
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'- TCGGAGAGAACTAGATCAACTGATG -3'
(R):5'- TATGGCCCTCAACAAACTGTAC -3'
Sequencing Primer
(F):5'- ACACTTTTAGCCAACATTTATTCATG -3'
(R):5'- TGGCCCTCAACAAACTGTACAAATTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation