Incidental Mutation 'R3777:Fam171b'
| ID |
271825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171b
|
| Ensembl Gene |
ENSMUSG00000048388 |
| Gene Name |
family with sequence similarity 171, member B |
| Synonyms |
D430039N05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83708605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 369
(I369K)
|
| 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: I369K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: I369K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dsg1b |
G |
A |
18: 20,532,644 (GRCm39) |
V563I |
probably damaging |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,467 (GRCm39) |
E389G |
unknown |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,535 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,428,229 (GRCm39) |
L789I |
possibly damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,888,238 (GRCm39) |
W92R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,527 (GRCm39) |
I276T |
possibly damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,905,462 (GRCm39) |
E2045D |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,983,761 (GRCm39) |
T496A |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Or13c3 |
A |
T |
4: 52,855,636 (GRCm39) |
N292K |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,519 (GRCm39) |
S230T |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,969 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,901 (GRCm39) |
S155R |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Pik3cg |
A |
C |
12: 32,244,708 (GRCm39) |
C915W |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,609,701 (GRCm39) |
H675Y |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,141,477 (GRCm39) |
V263D |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,160 (GRCm39) |
L16P |
probably damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,942,861 (GRCm39) |
E373G |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,812 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,989,852 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,180 (GRCm39) |
L215P |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,910 (GRCm39) |
D421G |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Vdac3 |
T |
C |
8: 23,070,525 (GRCm39) |
N128D |
probably benign |
Het |
| Vegfb |
G |
A |
19: 6,964,767 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
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 |
|
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'- ATCCAGGGTGAAACAAAACTGAA -3'
(R):5'- CATGTGTATATATGTGCATGTCTGA -3'
Sequencing Primer
(F):5'- GGTGAAACAAAACTGAAAATCTAGCC -3'
(R):5'- ATTGCAGCTTCCGTAAGAGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation