Incidental Mutation 'R8463:Fam171b'
| ID |
656635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171b
|
| Ensembl Gene |
ENSMUSG00000048388 |
| Gene Name |
family with sequence similarity 171, member B |
| Synonyms |
D430039N05Rik |
| MMRRC Submission |
067907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83683801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 106
(Y106C)
|
| 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: Y106C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: Y106C
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,192,909 (GRCm39) |
I146F |
probably damaging |
Het |
| Adcy8 |
G |
T |
15: 64,792,874 (GRCm39) |
D27E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,113 (GRCm39) |
I2466V |
probably benign |
Het |
| BC005624 |
T |
A |
2: 30,871,817 (GRCm39) |
E19V |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,211,608 (GRCm39) |
F279I |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,659,353 (GRCm39) |
L335M |
probably benign |
Het |
| Cdkn1c |
G |
A |
7: 143,014,324 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,415 (GRCm39) |
P1186L |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,353,236 (GRCm39) |
L75S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,749,580 (GRCm39) |
E338D |
possibly damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,617,441 (GRCm39) |
M289I |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,519,875 (GRCm39) |
D134V |
possibly damaging |
Het |
| Fgd3 |
T |
C |
13: 49,420,081 (GRCm39) |
K599E |
possibly damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,084,375 (GRCm39) |
I154F |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,842,053 (GRCm39) |
E141D |
probably benign |
Het |
| Gmds |
T |
C |
13: 32,003,906 (GRCm39) |
N371S |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,554 (GRCm39) |
A136T |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,893,672 (GRCm39) |
|
probably null |
Het |
| Hnmt |
T |
C |
2: 23,938,836 (GRCm39) |
M1V |
probably null |
Het |
| Hydin |
T |
C |
8: 111,237,553 (GRCm39) |
V1942A |
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,332,506 (GRCm39) |
A236S |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,896 (GRCm39) |
H654L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,322,250 (GRCm39) |
T1893M |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,922 (GRCm39) |
Y99* |
probably null |
Het |
| Mdga1 |
T |
C |
17: 30,068,703 (GRCm39) |
D208G |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,348 (GRCm39) |
E218G |
probably damaging |
Het |
| Mif4gd |
T |
A |
11: 115,499,324 (GRCm39) |
D186V |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,283 (GRCm39) |
Y191C |
probably damaging |
Het |
| Mtus1 |
C |
A |
8: 41,536,271 (GRCm39) |
V482L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,570,435 (GRCm39) |
T695S |
unknown |
Het |
| Muc4 |
A |
T |
16: 32,574,201 (GRCm39) |
M760L |
probably benign |
Het |
| Mybl2 |
A |
T |
2: 162,916,638 (GRCm39) |
S430C |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,276,896 (GRCm39) |
N211D |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,851,011 (GRCm39) |
T294A |
probably damaging |
Het |
| Or51k2 |
G |
A |
7: 103,595,834 (GRCm39) |
|
probably null |
Het |
| Or5w16 |
A |
T |
2: 87,577,437 (GRCm39) |
E299V |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,922,526 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
G |
18: 37,576,287 (GRCm39) |
S222A |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
A |
T |
10: 79,703,397 (GRCm39) |
V29E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,354 (GRCm39) |
P96L |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,599 (GRCm39) |
*222R |
probably null |
Het |
| Prss2 |
T |
A |
6: 41,498,739 (GRCm39) |
M1K |
probably null |
Het |
| Prss3 |
C |
A |
6: 41,352,059 (GRCm39) |
R68L |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,787,619 (GRCm39) |
Q512* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,801 (GRCm39) |
I65T |
probably benign |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,082 (GRCm39) |
A78T |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,897,583 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 44,003,605 (GRCm39) |
R1766G |
possibly damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,694,615 (GRCm39) |
L54P |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,820,886 (GRCm39) |
K386E |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,248 (GRCm39) |
S393P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,249,590 (GRCm39) |
V66A |
unknown |
Het |
| Tpm1 |
G |
T |
9: 66,955,512 (GRCm39) |
A45E |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,069,039 (GRCm39) |
Y294H |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,299,430 (GRCm39) |
V130A |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,369,340 (GRCm39) |
V78L |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,168 (GRCm39) |
V654A |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,914 (GRCm39) |
M1I |
probably null |
Het |
| Xpnpep3 |
A |
G |
15: 81,332,672 (GRCm39) |
K403R |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,810 (GRCm39) |
T154A |
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 |
|
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'- TTTCTGAGGAACCGCCAGAC -3'
(R):5'- GCTTAACAAATTTCCCTCCAACAGATG -3'
Sequencing Primer
(F):5'- TGAGGAACCGCCAGACTGATTTC -3'
(R):5'- GGAGAAATCATCTGCATTCACAAATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation