Incidental Mutation 'IGL02201:Nisch'
| ID |
284185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02201
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 30909051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000172142]
[ENSMUST00000168206]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: V382I
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V382I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
PDB:4PQ8|A
|
287 |
420 |
9e-8 |
PDB |
|
SCOP:d1h6ta2
|
291 |
421 |
6e-29 |
SMART |
|
Blast:LRR
|
311 |
332 |
5e-6 |
BLAST |
|
Blast:LRR
|
333 |
355 |
6e-6 |
BLAST |
|
Blast:LRR
|
378 |
403 |
5e-7 |
BLAST |
|
Blast:LRR
|
403 |
429 |
6e-7 |
BLAST |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
534 |
N/A |
INTRINSIC |
|
coiled coil region
|
625 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1069 |
N/A |
INTRINSIC |
|
low complexity region
|
1081 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1491 |
1509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164956
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164989
|
| SMART Domains |
Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_4
|
289 |
332 |
3.2e-8 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
2.9e-3 |
PFAM |
|
Pfam:LRR_1
|
313 |
332 |
4.2e-2 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165981
AA Change: V382I
|
| SMART Domains |
Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: V382I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_7
|
289 |
305 |
7.4e-2 |
PFAM |
|
Pfam:LRR_6
|
289 |
309 |
3.8e-2 |
PFAM |
|
Pfam:LRR_4
|
289 |
333 |
5.9e-8 |
PFAM |
|
Pfam:LRR_8
|
289 |
346 |
6.8e-10 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
4.4e-3 |
PFAM |
|
Pfam:LRR_8
|
312 |
369 |
7.3e-9 |
PFAM |
|
Pfam:LRR_1
|
313 |
333 |
1.8e-2 |
PFAM |
|
Pfam:LRR_4
|
329 |
377 |
2.3e-8 |
PFAM |
|
Pfam:LRR_6
|
333 |
354 |
2e-3 |
PFAM |
|
Pfam:LRR_7
|
334 |
350 |
1.9e-1 |
PFAM |
|
Pfam:LRR_1
|
335 |
354 |
1.2e-2 |
PFAM |
|
Blast:LRR
|
378 |
403 |
1e-6 |
BLAST |
|
Blast:LRR
|
403 |
429 |
1e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167223
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172142
AA Change: V382I
|
| SMART Domains |
Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: V382I
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
15 |
119 |
2.17e-26 |
SMART |
|
Pfam:LRR_7
|
289 |
305 |
8.2e-2 |
PFAM |
|
Pfam:LRR_6
|
289 |
309 |
4.2e-2 |
PFAM |
|
Pfam:LRR_4
|
289 |
333 |
6.6e-8 |
PFAM |
|
Pfam:LRR_8
|
289 |
346 |
7.6e-10 |
PFAM |
|
Pfam:LRR_1
|
290 |
311 |
4.9e-3 |
PFAM |
|
Pfam:LRR_8
|
312 |
369 |
7.7e-9 |
PFAM |
|
Pfam:LRR_1
|
313 |
333 |
2e-2 |
PFAM |
|
Pfam:LRR_4
|
329 |
377 |
2.7e-8 |
PFAM |
|
Pfam:LRR_6
|
333 |
354 |
2.2e-3 |
PFAM |
|
Pfam:LRR_7
|
334 |
350 |
2.1e-1 |
PFAM |
|
Pfam:LRR_1
|
335 |
354 |
1.3e-2 |
PFAM |
|
Blast:LRR
|
378 |
403 |
1e-6 |
BLAST |
|
Blast:LRR
|
403 |
429 |
1e-7 |
BLAST |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167979
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168206
AA Change: V137I
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V137I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
44 |
101 |
3.9e-9 |
PFAM |
|
Pfam:LRR_1
|
45 |
66 |
2.6e-2 |
PFAM |
|
Pfam:LRR_6
|
88 |
109 |
1.1e-2 |
PFAM |
|
Pfam:LRR_4
|
89 |
132 |
6.5e-8 |
PFAM |
|
Pfam:LRR_1
|
90 |
109 |
6.9e-2 |
PFAM |
|
Blast:LRR
|
133 |
158 |
4e-7 |
BLAST |
|
Blast:LRR
|
158 |
184 |
6e-7 |
BLAST |
|
low complexity region
|
244 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
289 |
N/A |
INTRINSIC |
|
coiled coil region
|
380 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
793 |
824 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170253
AA Change: V38I
|
| SMART Domains |
Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910
AA Change: V38I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dcea3
|
2 |
86 |
3e-11 |
SMART |
|
Blast:LRR
|
13 |
34 |
1e-5 |
BLAST |
|
Blast:LRR
|
35 |
60 |
1e-7 |
BLAST |
|
Blast:LRR
|
60 |
86 |
2e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170343
|
| SMART Domains |
Protein: ENSMUSP00000130246
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
74 |
131 |
2.3e-8 |
PFAM |
|
Blast:LRR
|
140 |
165 |
7e-7 |
BLAST |
|
Blast:LRR
|
165 |
191 |
6e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168451
|
| SMART Domains |
Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
4 |
53 |
5.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169149
|
| SMART Domains |
Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
2 |
27 |
1e-10 |
BLAST |
|
PDB:3P0C|B
|
2 |
33 |
7e-12 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for either a knock-out or hypomorphic allele exhibit hearing loss associated with increased susceptibility to otitis media. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,131,022 (GRCm39) |
D238G |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
| Fgr |
A |
T |
4: 132,722,235 (GRCm39) |
Y168F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
| Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
| Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
| Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
| Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
| Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
| Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
| Scd2 |
A |
G |
19: 44,289,779 (GRCm39) |
N258S |
probably damaging |
Het |
| Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
| Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
| Trim67 |
G |
T |
8: 125,520,797 (GRCm39) |
R53L |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,400,549 (GRCm39) |
T50A |
probably damaging |
Het |
|
| Other mutations in Nisch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01782:Nisch
|
APN |
14 |
30,898,596 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01934:Nisch
|
APN |
14 |
30,898,696 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02964:Nisch
|
APN |
14 |
30,902,769 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03340:Nisch
|
APN |
14 |
30,895,101 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0092:Nisch
|
UTSW |
14 |
30,913,410 (GRCm39) |
unclassified |
probably benign |
|
|
R0119:Nisch
|
UTSW |
14 |
30,893,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Nisch
|
UTSW |
14 |
30,925,351 (GRCm39) |
unclassified |
probably benign |
|
|
R0299:Nisch
|
UTSW |
14 |
30,893,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Nisch
|
UTSW |
14 |
30,899,421 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1529:Nisch
|
UTSW |
14 |
30,902,895 (GRCm39) |
unclassified |
probably benign |
|
|
R1643:Nisch
|
UTSW |
14 |
30,895,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Nisch
|
UTSW |
14 |
30,899,228 (GRCm39) |
unclassified |
probably benign |
|
|
R1663:Nisch
|
UTSW |
14 |
30,913,478 (GRCm39) |
unclassified |
probably benign |
|
|
R1676:Nisch
|
UTSW |
14 |
30,902,859 (GRCm39) |
unclassified |
probably benign |
|
|
R1750:Nisch
|
UTSW |
14 |
30,896,839 (GRCm39) |
unclassified |
probably benign |
|
|
R1799:Nisch
|
UTSW |
14 |
30,899,228 (GRCm39) |
unclassified |
probably benign |
|
|
R1824:Nisch
|
UTSW |
14 |
30,898,389 (GRCm39) |
unclassified |
probably benign |
|
|
R1876:Nisch
|
UTSW |
14 |
30,895,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Nisch
|
UTSW |
14 |
30,894,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2117:Nisch
|
UTSW |
14 |
30,899,242 (GRCm39) |
unclassified |
probably benign |
|
|
R2276:Nisch
|
UTSW |
14 |
30,898,803 (GRCm39) |
unclassified |
probably benign |
|
|
R2402:Nisch
|
UTSW |
14 |
30,906,971 (GRCm39) |
intron |
probably benign |
|
|
R3703:Nisch
|
UTSW |
14 |
30,898,702 (GRCm39) |
unclassified |
probably benign |
|
|
R3704:Nisch
|
UTSW |
14 |
30,898,702 (GRCm39) |
unclassified |
probably benign |
|
|
R3705:Nisch
|
UTSW |
14 |
30,898,702 (GRCm39) |
unclassified |
probably benign |
|
|
R3897:Nisch
|
UTSW |
14 |
30,912,957 (GRCm39) |
unclassified |
probably benign |
|
|
R4024:Nisch
|
UTSW |
14 |
30,898,776 (GRCm39) |
unclassified |
probably benign |
|
|
R4412:Nisch
|
UTSW |
14 |
30,908,615 (GRCm39) |
intron |
probably benign |
|
|
R4752:Nisch
|
UTSW |
14 |
30,914,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4832:Nisch
|
UTSW |
14 |
30,899,587 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5009:Nisch
|
UTSW |
14 |
30,909,186 (GRCm39) |
unclassified |
probably benign |
|
|
R5043:Nisch
|
UTSW |
14 |
30,898,422 (GRCm39) |
unclassified |
probably benign |
|
|
R5062:Nisch
|
UTSW |
14 |
30,894,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Nisch
|
UTSW |
14 |
30,928,524 (GRCm39) |
splice site |
probably null |
|
|
R5754:Nisch
|
UTSW |
14 |
30,913,373 (GRCm39) |
unclassified |
probably benign |
|
|
R5906:Nisch
|
UTSW |
14 |
30,893,985 (GRCm39) |
splice site |
probably null |
|
|
R5930:Nisch
|
UTSW |
14 |
30,895,102 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6246:Nisch
|
UTSW |
14 |
30,894,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Nisch
|
UTSW |
14 |
30,899,085 (GRCm39) |
unclassified |
probably benign |
|
|
R6260:Nisch
|
UTSW |
14 |
30,899,085 (GRCm39) |
unclassified |
probably benign |
|
|
R6327:Nisch
|
UTSW |
14 |
30,893,444 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6671:Nisch
|
UTSW |
14 |
30,926,420 (GRCm39) |
unclassified |
probably benign |
|
|
R6874:Nisch
|
UTSW |
14 |
30,898,641 (GRCm39) |
unclassified |
probably benign |
|
|
R6887:Nisch
|
UTSW |
14 |
30,907,301 (GRCm39) |
unclassified |
probably benign |
|
|
R7273:Nisch
|
UTSW |
14 |
30,896,364 (GRCm39) |
missense |
unknown |
|
|
R7401:Nisch
|
UTSW |
14 |
30,928,537 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7423:Nisch
|
UTSW |
14 |
30,893,658 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7822:Nisch
|
UTSW |
14 |
30,896,608 (GRCm39) |
unclassified |
probably benign |
|
|
R7870:Nisch
|
UTSW |
14 |
30,894,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Nisch
|
UTSW |
14 |
30,898,652 (GRCm39) |
nonsense |
probably null |
|
|
R8215:Nisch
|
UTSW |
14 |
30,908,658 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8672:Nisch
|
UTSW |
14 |
30,895,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Nisch
|
UTSW |
14 |
30,899,331 (GRCm39) |
missense |
unknown |
|
|
R9134:Nisch
|
UTSW |
14 |
30,896,637 (GRCm39) |
unclassified |
probably benign |
|
|
R9153:Nisch
|
UTSW |
14 |
30,896,782 (GRCm39) |
missense |
unknown |
|
|
R9240:Nisch
|
UTSW |
14 |
30,906,988 (GRCm39) |
missense |
unknown |
|
|
R9652:Nisch
|
UTSW |
14 |
30,893,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Nisch
|
UTSW |
14 |
30,893,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Nisch
|
UTSW |
14 |
30,895,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Nisch
|
UTSW |
14 |
30,895,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Nisch
|
UTSW |
14 |
30,909,041 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Nisch
|
UTSW |
14 |
30,899,395 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation