Incidental Mutation 'IGL01782:Nisch'
| ID |
153957 |
| 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 # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 30898596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169906]
[ENSMUST00000169628]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: P928L
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: P928L
| 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: ENSMUST00000163552
|
| SMART Domains |
Protein: ENSMUSP00000131689
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167449
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168206
AA Change: P683L
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: P683L
| 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 |
probably benign
Transcript: ENSMUST00000170253
|
| SMART Domains |
Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910
| 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 |
probably benign
Transcript: ENSMUST00000170436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169906
|
| SMART Domains |
Protein: ENSMUSP00000129268
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
183 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000169628
|
| SMART Domains |
Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
249 |
N/A |
INTRINSIC |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Nisch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Nisch
|
APN |
14 |
30,898,696 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02201:Nisch
|
APN |
14 |
30,909,051 (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 |
2014-02-04 |
Incidental Mutation