Incidental Mutation 'R9353:Fam171b'
| ID |
708198 |
| 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 # |
R9353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83707028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 299
(H299Q)
|
| 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: H299Q
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: H299Q
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp7b |
A |
T |
8: 22,517,890 (GRCm39) |
V316D |
possibly damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,774,954 (GRCm39) |
E159G |
probably damaging |
Het |
| Cc2d2a |
T |
C |
5: 43,860,691 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
G |
11: 29,427,433 (GRCm39) |
D1046G |
probably damaging |
Het |
| Ccl12 |
A |
T |
11: 81,993,437 (GRCm39) |
D25V |
possibly damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ces3a |
G |
T |
8: 105,776,547 (GRCm39) |
R45L |
probably benign |
Het |
| Cntln |
G |
T |
4: 84,802,597 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
A |
16: 59,421,107 (GRCm39) |
|
probably null |
Het |
| Cxxc4 |
G |
T |
3: 133,945,913 (GRCm39) |
G165C |
unknown |
Het |
| Dab2ip |
G |
A |
2: 35,598,851 (GRCm39) |
C181Y |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,434 (GRCm39) |
V403A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,578,507 (GRCm39) |
S3089P |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,067,571 (GRCm39) |
I1196N |
probably benign |
Het |
| Faiml |
T |
C |
9: 99,116,462 (GRCm39) |
Y76C |
probably damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,259 (GRCm39) |
N85S |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,725,623 (GRCm39) |
F999L |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,211 (GRCm39) |
S614R |
possibly damaging |
Het |
| Il18rap |
A |
G |
1: 40,587,088 (GRCm39) |
T457A |
probably benign |
Het |
| Inmt |
C |
T |
6: 55,151,984 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
C |
T |
2: 166,947,007 (GRCm39) |
G614S |
probably benign |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Kdm5a |
T |
A |
6: 120,404,730 (GRCm39) |
V1324E |
probably benign |
Het |
| Lyn |
A |
T |
4: 3,746,804 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 103,012,800 (GRCm39) |
H397Q |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,872,622 (GRCm39) |
D105E |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,545 (GRCm39) |
T1214A |
unknown |
Het |
| Nav3 |
A |
G |
10: 109,554,065 (GRCm39) |
S1766P |
probably damaging |
Het |
| Ncdn |
T |
A |
4: 126,644,464 (GRCm39) |
E119D |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,691,471 (GRCm39) |
A416E |
probably damaging |
Het |
| Nek5 |
A |
G |
8: 22,563,961 (GRCm39) |
V623A |
probably benign |
Het |
| Oas1g |
A |
G |
5: 121,023,986 (GRCm39) |
Y108H |
possibly damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,062 (GRCm39) |
T224A |
probably benign |
Het |
| P2ry1 |
T |
C |
3: 60,911,916 (GRCm39) |
S352P |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,382 (GRCm39) |
F535S |
probably damaging |
Het |
| Pitpnb |
T |
C |
5: 111,530,891 (GRCm39) |
L228P |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,161,145 (GRCm39) |
H368N |
probably damaging |
Het |
| Snrnp35 |
T |
A |
5: 124,628,559 (GRCm39) |
V124E |
probably damaging |
Het |
| Spdye4a |
C |
T |
5: 143,204,793 (GRCm39) |
M224I |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,792,267 (GRCm39) |
Y424H |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,271,060 (GRCm39) |
D190E |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,051 (GRCm39) |
D887G |
probably damaging |
Het |
| Tiam2 |
C |
T |
17: 3,558,074 (GRCm39) |
Q1233* |
probably null |
Het |
| Tmem88 |
A |
G |
11: 69,288,939 (GRCm39) |
V38A |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,902 (GRCm39) |
M30I |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,261 (GRCm39) |
H247R |
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 |
|
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 |
|
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'- CACAGGGTCCATAAGTTAAGTTTTG -3'
(R):5'- GGCTGTTATCATCTTCAGCATGC -3'
Sequencing Primer
(F):5'- TGTCCTTTGGTCATGGTAAATAATTC -3'
(R):5'- GTTATCATCTTCAGCATGCTATGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation