Incidental Mutation 'R1125:C87436'
| ID |
96045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C87436
|
| Ensembl Gene |
ENSMUSG00000046679 |
| Gene Name |
expressed sequence C87436 |
| Synonyms |
|
| MMRRC Submission |
039198-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R1125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86415356-86450482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86424344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050497]
[ENSMUST00000113698]
[ENSMUST00000113700]
[ENSMUST00000133753]
[ENSMUST00000141972]
[ENSMUST00000203568]
[ENSMUST00000204137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050497
AA Change: V292A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: V292A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1.1e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113698
AA Change: V282A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: V282A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1e-22 |
PFAM |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113700
AA Change: V292A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: V292A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
1.3e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133753
AA Change: V292A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: V292A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141972
AA Change: V292A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: V292A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203568
|
| SMART Domains |
Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
3.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204137
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
| Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
| Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
| Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
| Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
| Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
| Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
| Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
| Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
| Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
| Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably damaging |
Het |
|
| Other mutations in C87436 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:C87436
|
APN |
6 |
86,434,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01596:C87436
|
APN |
6 |
86,423,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:C87436
|
APN |
6 |
86,430,677 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02798:C87436
|
APN |
6 |
86,423,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0008:C87436
|
UTSW |
6 |
86,423,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0128:C87436
|
UTSW |
6 |
86,446,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:C87436
|
UTSW |
6 |
86,426,832 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0970:C87436
|
UTSW |
6 |
86,424,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1310:C87436
|
UTSW |
6 |
86,422,432 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1640:C87436
|
UTSW |
6 |
86,423,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1764:C87436
|
UTSW |
6 |
86,430,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2213:C87436
|
UTSW |
6 |
86,422,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2275:C87436
|
UTSW |
6 |
86,422,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3947:C87436
|
UTSW |
6 |
86,423,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:C87436
|
UTSW |
6 |
86,442,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5982:C87436
|
UTSW |
6 |
86,422,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6171:C87436
|
UTSW |
6 |
86,422,449 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6744:C87436
|
UTSW |
6 |
86,423,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:C87436
|
UTSW |
6 |
86,439,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7253:C87436
|
UTSW |
6 |
86,442,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:C87436
|
UTSW |
6 |
86,423,411 (GRCm39) |
splice site |
probably null |
|
|
R8035:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:C87436
|
UTSW |
6 |
86,434,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:C87436
|
UTSW |
6 |
86,422,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9099:C87436
|
UTSW |
6 |
86,439,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:C87436
|
UTSW |
6 |
86,423,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9270:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGATGGAACCCAGAACCTTATGC -3'
(R):5'- ACACCACCTGGCCTGGCTTTTA -3'
Sequencing Primer
(F):5'- tcccaaaccacttcctcattc -3'
(R):5'- cacccgactgctcttcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation