Incidental Mutation 'IGL03340:Nisch'
| ID |
417183 |
| 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 # |
IGL03340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30895101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1065
(V1065A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000036618]
[ENSMUST00000167449]
[ENSMUST00000169628]
[ENSMUST00000168206]
[ENSMUST00000169906]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022469
AA Change: V1310A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1310A
| 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 |
probably benign
Transcript: ENSMUST00000036618
|
| SMART Domains |
Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
112 |
149 |
6.65e-2 |
SMART |
|
EGF
|
160 |
194 |
2.28e0 |
SMART |
|
EGF
|
199 |
232 |
1.4e0 |
SMART |
|
EGF
|
236 |
272 |
4.97e-1 |
SMART |
|
EGF
|
276 |
319 |
1.95e1 |
SMART |
|
EGF_like
|
321 |
357 |
5.03e1 |
SMART |
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
Blast:FAS1
|
414 |
501 |
2e-52 |
BLAST |
|
FAS1
|
543 |
645 |
1.35e-24 |
SMART |
|
EGF_like
|
780 |
817 |
5.45e1 |
SMART |
|
EGF
|
822 |
861 |
1.08e-1 |
SMART |
|
EGF
|
865 |
904 |
3.15e-3 |
SMART |
|
EGF
|
908 |
947 |
1.3e1 |
SMART |
|
EGF
|
951 |
989 |
1.47e1 |
SMART |
|
FAS1
|
1023 |
1122 |
1.3e-17 |
SMART |
|
FAS1
|
1165 |
1257 |
2.94e0 |
SMART |
|
EGF
|
1332 |
1369 |
1.4e0 |
SMART |
|
EGF
|
1379 |
1413 |
1.88e-1 |
SMART |
|
EGF
|
1420 |
1455 |
6.02e0 |
SMART |
|
EGF
|
1459 |
1497 |
3.82e-2 |
SMART |
|
EGF
|
1501 |
1540 |
2.05e-2 |
SMART |
|
EGF
|
1544 |
1583 |
2.25e1 |
SMART |
|
FAS1
|
1616 |
1712 |
1.61e-22 |
SMART |
|
FAS1
|
1763 |
1868 |
2.12e-17 |
SMART |
|
EGF
|
1970 |
2007 |
1.26e-2 |
SMART |
|
EGF
|
2017 |
2051 |
1.61e0 |
SMART |
|
EGF
|
2059 |
2090 |
2.45e0 |
SMART |
|
EGF
|
2094 |
2131 |
3.46e0 |
SMART |
|
EGF
|
2135 |
2174 |
3.82e-2 |
SMART |
|
LINK
|
2206 |
2301 |
8.55e-49 |
SMART |
|
FAS1
|
2367 |
2462 |
2.06e-6 |
SMART |
|
transmembrane domain
|
2476 |
2498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159532
|
| 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 |
possibly damaging
Transcript: ENSMUST00000167449
AA Change: V64A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169628
AA Change: V78A
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168206
AA Change: V1065A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V1065A
| 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 |
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 |
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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,126,786 (GRCm39) |
L26P |
probably benign |
Het |
| Aff1 |
A |
T |
5: 103,931,670 (GRCm39) |
H104L |
possibly damaging |
Het |
| Apon |
T |
C |
10: 128,090,847 (GRCm39) |
I175T |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,115,830 (GRCm39) |
F168V |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,685,405 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
A |
17: 25,192,516 (GRCm39) |
P956L |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,344,767 (GRCm39) |
V78M |
probably damaging |
Het |
| Cyp4b1 |
G |
A |
4: 115,499,076 (GRCm39) |
P97S |
probably damaging |
Het |
| Fads2 |
G |
T |
19: 10,069,136 (GRCm39) |
P96Q |
possibly damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,310 (GRCm39) |
D120G |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,517 (GRCm39) |
S241P |
probably damaging |
Het |
| Gm21972 |
G |
T |
1: 86,061,450 (GRCm39) |
A887S |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,601,003 (GRCm39) |
D295G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,740,668 (GRCm39) |
V270D |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 189,027,878 (GRCm39) |
I126F |
possibly damaging |
Het |
| Kifap3 |
T |
G |
1: 163,656,718 (GRCm39) |
V346G |
possibly damaging |
Het |
| Kpna1 |
T |
A |
16: 35,820,616 (GRCm39) |
N20K |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,916,298 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,427 (GRCm39) |
C43R |
possibly damaging |
Het |
| Lars1 |
G |
A |
18: 42,361,715 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
C |
15: 7,207,417 (GRCm39) |
W540R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,358,981 (GRCm39) |
S631P |
probably damaging |
Het |
| Mbd1 |
G |
T |
18: 74,407,553 (GRCm39) |
R111L |
probably benign |
Het |
| Meltf |
C |
T |
16: 31,711,602 (GRCm39) |
T576M |
probably damaging |
Het |
| Mmp20 |
G |
A |
9: 7,643,995 (GRCm39) |
G228S |
probably damaging |
Het |
| Mob4 |
A |
G |
1: 55,175,867 (GRCm39) |
D37G |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,073,048 (GRCm39) |
K234E |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,899,607 (GRCm39) |
V1764A |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,229 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Npas4 |
A |
T |
19: 5,035,094 (GRCm39) |
|
probably benign |
Het |
| Or4c124 |
T |
C |
2: 89,156,039 (GRCm39) |
T162A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,997 (GRCm39) |
D280G |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,990,125 (GRCm39) |
I182T |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,487,711 (GRCm39) |
W371R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,082,864 (GRCm39) |
|
probably null |
Het |
| Scaper |
G |
T |
9: 55,510,116 (GRCm39) |
T640K |
possibly damaging |
Het |
| Sun3 |
A |
C |
11: 8,973,285 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,111,451 (GRCm39) |
K1056M |
possibly damaging |
Het |
| Tgs1 |
C |
A |
4: 3,604,813 (GRCm39) |
P745Q |
probably benign |
Het |
| Tomm20l |
A |
T |
12: 71,164,388 (GRCm39) |
|
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,738,905 (GRCm39) |
L237V |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,644 (GRCm39) |
Y214C |
probably benign |
Het |
| Zan |
G |
A |
5: 137,426,136 (GRCm39) |
P2547S |
unknown |
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 |
|
|
IGL02201:Nisch
|
APN |
14 |
30,909,051 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02964:Nisch
|
APN |
14 |
30,902,769 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation