Incidental Mutation 'IGL01314:C87436'
ID |
73783 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C87436
|
Ensembl Gene |
ENSMUSG00000046679 |
Gene Name |
expressed sequence C87436 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.319)
|
Stock # |
IGL01314
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
86415356-86450482 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86434837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 395
(F395S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050497]
[ENSMUST00000113698]
[ENSMUST00000113700]
[ENSMUST00000133753]
[ENSMUST00000141972]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050497
AA Change: F395S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057461 Gene: ENSMUSG00000046679 AA Change: F395S
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 damaging
Transcript: ENSMUST00000113698
AA Change: F385S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109328 Gene: ENSMUSG00000046679 AA Change: F385S
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 damaging
Transcript: ENSMUST00000113700
AA Change: F395S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109330 Gene: ENSMUSG00000046679 AA Change: F395S
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
|
SMART Domains |
Protein: ENSMUSP00000121520 Gene: ENSMUSG00000046679
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
|
SMART Domains |
Protein: ENSMUSP00000115916 Gene: ENSMUSG00000046679
Domain | Start | End | E-Value | Type |
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
C |
T |
15: 11,071,939 (GRCm39) |
A161V |
probably benign |
Het |
Bptf |
A |
T |
11: 106,945,679 (GRCm39) |
V2520E |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,014 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
T |
A |
7: 17,481,181 (GRCm39) |
Y309* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,735,195 (GRCm39) |
D1011G |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,713,151 (GRCm39) |
Y1608H |
probably damaging |
Het |
Dcaf1 |
T |
C |
9: 106,711,390 (GRCm39) |
I77T |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,286,587 (GRCm39) |
L170P |
probably damaging |
Het |
Ddx28 |
A |
G |
8: 106,737,212 (GRCm39) |
F282S |
probably damaging |
Het |
Egf |
A |
G |
3: 129,479,909 (GRCm39) |
I497T |
probably benign |
Het |
Emsy |
A |
G |
7: 98,242,662 (GRCm39) |
V1159A |
probably benign |
Het |
Hk3 |
C |
A |
13: 55,154,876 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,036,200 (GRCm39) |
D2049G |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,611,472 (GRCm39) |
S45* |
probably null |
Het |
Irf8 |
A |
G |
8: 121,480,119 (GRCm39) |
Y119C |
probably damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,600 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,380,513 (GRCm39) |
S1273P |
probably damaging |
Het |
Man2c1 |
A |
T |
9: 57,049,103 (GRCm39) |
H867L |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,187 (GRCm39) |
T286A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,058,238 (GRCm39) |
F1267L |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 15,005,079 (GRCm39) |
E128D |
probably damaging |
Het |
Or10ak9 |
G |
A |
4: 118,726,328 (GRCm39) |
V117I |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,637 (GRCm39) |
V1322A |
probably benign |
Het |
Poc1b |
C |
T |
10: 98,965,503 (GRCm39) |
T144I |
probably damaging |
Het |
Prcc |
T |
A |
3: 87,777,387 (GRCm39) |
N196Y |
probably damaging |
Het |
Psma5 |
G |
A |
3: 108,187,111 (GRCm39) |
V237M |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,756,322 (GRCm39) |
L11P |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,646,104 (GRCm39) |
F132S |
probably damaging |
Het |
Rgs13 |
T |
G |
1: 144,047,179 (GRCm39) |
D14A |
probably benign |
Het |
Rlig1 |
A |
C |
10: 100,409,473 (GRCm39) |
D313E |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
C |
A |
18: 42,706,374 (GRCm39) |
A1017D |
probably damaging |
Het |
Tent5c |
T |
C |
3: 100,380,490 (GRCm39) |
K89E |
probably benign |
Het |
Tmem79 |
T |
C |
3: 88,239,883 (GRCm39) |
I276V |
possibly damaging |
Het |
Tmem94 |
C |
A |
11: 115,680,835 (GRCm39) |
H113N |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,467,397 (GRCm39) |
D715N |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,803,226 (GRCm39) |
T187A |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,478,154 (GRCm39) |
S3590T |
probably damaging |
Het |
|
Other mutations in C87436 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1125:C87436
|
UTSW |
6 |
86,424,344 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2013-10-07 |