Incidental Mutation 'IGL02798:C87436'
| ID |
360050 |
| 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 # |
IGL02798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
86415356-86450482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86423184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 253
(C253S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115916
(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: C253S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: C253S
| 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: C253S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: C253S
| 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: C253S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: C253S
| 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: C253S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: C253S
| 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: C253S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: C253S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,277,724 (GRCm39) |
C514S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,126,002 (GRCm39) |
I105T |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,292,441 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,578,833 (GRCm39) |
V705A |
probably benign |
Het |
| Cbx7 |
T |
C |
15: 79,802,600 (GRCm39) |
T226A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,875,190 (GRCm39) |
I324T |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,720,774 (GRCm39) |
H2608L |
probably damaging |
Het |
| Cramp1 |
A |
G |
17: 25,187,894 (GRCm39) |
|
probably benign |
Het |
| Ddx25 |
A |
G |
9: 35,462,693 (GRCm39) |
C231R |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,563,690 (GRCm39) |
|
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,132,775 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,717,824 (GRCm39) |
P842S |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,102,186 (GRCm39) |
|
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,686,531 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,307,055 (GRCm39) |
T392K |
probably benign |
Het |
| Msl2 |
G |
T |
9: 100,957,430 (GRCm39) |
R33S |
probably benign |
Het |
| Nrde2 |
T |
A |
12: 100,110,081 (GRCm39) |
K317* |
probably null |
Het |
| Nub1 |
C |
A |
5: 24,897,812 (GRCm39) |
A42D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,807 (GRCm39) |
V13A |
possibly damaging |
Het |
| Or13p3 |
T |
C |
4: 118,566,696 (GRCm39) |
F31L |
probably damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,835 (GRCm39) |
K165N |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,478 (GRCm39) |
C127* |
probably null |
Het |
| Phkb |
T |
C |
8: 86,770,406 (GRCm39) |
Y892H |
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,124,824 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,858,649 (GRCm39) |
D147V |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,544,219 (GRCm39) |
D424G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,370,903 (GRCm39) |
R559Q |
possibly damaging |
Het |
| Sctr |
G |
A |
1: 119,949,910 (GRCm39) |
C33Y |
probably damaging |
Het |
| Sh2b2 |
G |
T |
5: 136,250,817 (GRCm39) |
A419E |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,347,449 (GRCm39) |
M317K |
probably damaging |
Het |
| Slc39a4 |
T |
C |
15: 76,499,382 (GRCm39) |
S178G |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,217 (GRCm39) |
C121S |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,191,533 (GRCm39) |
S148G |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,206,937 (GRCm39) |
V287E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,963 (GRCm39) |
K507R |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,586,207 (GRCm39) |
K21841N |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,220,346 (GRCm39) |
Y380H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,340,991 (GRCm39) |
T1840A |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,694,070 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-12-18 |
Incidental Mutation