Incidental Mutation 'R1656:Nisch'
ID |
189132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nisch
|
Ensembl Gene |
ENSMUSG00000021910 |
Gene Name |
nischarin |
Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
MMRRC Submission |
039692-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1656 (G1)
|
Quality Score |
199 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 30899228 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: H717Q
|
SMART Domains |
Protein: ENSMUSP00000022469 Gene: ENSMUSG00000021910 AA Change: H717Q
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: H472Q
|
SMART Domains |
Protein: ENSMUSP00000132842 Gene: ENSMUSG00000021910 AA Change: H472Q
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 |
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: ENSMUST00000169628
|
SMART Domains |
Protein: ENSMUSP00000131465 Gene: ENSMUSG00000021910
Domain | Start | End | E-Value | Type |
low complexity region
|
231 |
249 |
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
96% (79/82) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
A |
T |
14: 32,099,901 (GRCm39) |
I42N |
possibly damaging |
Het |
Adarb2 |
T |
A |
13: 8,253,287 (GRCm39) |
S11T |
unknown |
Het |
Adgrg1 |
C |
T |
8: 95,738,438 (GRCm39) |
Q644* |
probably null |
Het |
Akr1c18 |
T |
G |
13: 4,195,252 (GRCm39) |
I69L |
probably benign |
Het |
Anxa9 |
C |
T |
3: 95,207,884 (GRCm39) |
V219I |
probably benign |
Het |
Aqp9 |
T |
C |
9: 71,045,385 (GRCm39) |
T101A |
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,613,057 (GRCm39) |
R251W |
probably damaging |
Het |
Arl13b |
T |
A |
16: 62,627,007 (GRCm39) |
E231D |
possibly damaging |
Het |
Atosa |
C |
T |
9: 74,916,241 (GRCm39) |
A280V |
probably benign |
Het |
Bcl2l11 |
C |
T |
2: 128,000,176 (GRCm39) |
A173V |
probably benign |
Het |
Ccni |
A |
T |
5: 93,335,933 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,474,485 (GRCm39) |
E785G |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,849 (GRCm39) |
Y167C |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,768,466 (GRCm39) |
V757G |
possibly damaging |
Het |
Ctsc |
T |
C |
7: 87,930,616 (GRCm39) |
V65A |
possibly damaging |
Het |
Cuedc2 |
G |
A |
19: 46,320,427 (GRCm39) |
S48L |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 43,978,510 (GRCm39) |
M4K |
possibly damaging |
Het |
Dgcr8 |
T |
C |
16: 18,074,577 (GRCm39) |
S733G |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,488 (GRCm39) |
S4017P |
probably damaging |
Het |
Ehbp1 |
A |
G |
11: 22,096,694 (GRCm39) |
I255T |
probably benign |
Het |
Fam83e |
T |
C |
7: 45,371,687 (GRCm39) |
V28A |
probably benign |
Het |
Fanci |
A |
G |
7: 79,054,936 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,478,567 (GRCm39) |
Q2538* |
probably null |
Het |
Fshr |
A |
G |
17: 89,508,009 (GRCm39) |
F11S |
unknown |
Het |
Gab1 |
G |
T |
8: 81,515,388 (GRCm39) |
P310Q |
probably damaging |
Het |
Galnt18 |
A |
G |
7: 111,215,699 (GRCm39) |
|
probably benign |
Het |
Gm28042 |
C |
A |
2: 119,869,370 (GRCm39) |
P355Q |
probably damaging |
Het |
H2-DMa |
A |
G |
17: 34,357,116 (GRCm39) |
T205A |
possibly damaging |
Het |
Hnf4g |
A |
T |
3: 3,718,011 (GRCm39) |
D420V |
probably benign |
Het |
Ift70b |
T |
C |
2: 75,767,760 (GRCm39) |
K331R |
probably benign |
Het |
Il1b |
A |
G |
2: 129,207,989 (GRCm39) |
V164A |
probably damaging |
Het |
Irf4 |
C |
A |
13: 30,941,485 (GRCm39) |
H279Q |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,409,364 (GRCm39) |
T203A |
possibly damaging |
Het |
Lsamp |
C |
T |
16: 41,775,682 (GRCm39) |
P178S |
probably damaging |
Het |
Mcm6 |
T |
C |
1: 128,277,155 (GRCm39) |
S223G |
possibly damaging |
Het |
Misp |
G |
T |
10: 79,661,777 (GRCm39) |
V65L |
possibly damaging |
Het |
Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Myef2 |
G |
T |
2: 124,939,860 (GRCm39) |
|
probably null |
Het |
Myo1e |
T |
A |
9: 70,303,216 (GRCm39) |
I1079N |
probably damaging |
Het |
Obox7 |
T |
C |
7: 14,399,346 (GRCm39) |
S191P |
probably benign |
Het |
Or11h7 |
T |
C |
14: 50,891,465 (GRCm39) |
V257A |
probably benign |
Het |
Or13p10 |
A |
G |
4: 118,523,385 (GRCm39) |
I224V |
probably damaging |
Het |
Or14c40 |
C |
T |
7: 86,313,331 (GRCm39) |
L154F |
probably benign |
Het |
Or1j11 |
G |
A |
2: 36,311,658 (GRCm39) |
V83M |
probably benign |
Het |
Or5w14 |
A |
T |
2: 87,541,422 (GRCm39) |
V276D |
possibly damaging |
Het |
Or7d9 |
A |
G |
9: 20,197,873 (GRCm39) |
R301G |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,333 (GRCm39) |
S492P |
possibly damaging |
Het |
Phyh |
A |
T |
2: 4,943,164 (GRCm39) |
N337I |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,985,060 (GRCm39) |
|
probably benign |
Het |
Prag1 |
G |
T |
8: 36,571,500 (GRCm39) |
K694N |
probably damaging |
Het |
Proser2 |
C |
T |
2: 6,107,870 (GRCm39) |
E49K |
probably damaging |
Het |
Pskh1 |
T |
C |
8: 106,656,389 (GRCm39) |
V355A |
possibly damaging |
Het |
Psmc2 |
T |
C |
5: 22,004,549 (GRCm39) |
V182A |
possibly damaging |
Het |
Rbfox1 |
A |
G |
16: 7,124,333 (GRCm39) |
|
probably benign |
Het |
Slc26a7 |
A |
T |
4: 14,621,221 (GRCm39) |
I55K |
possibly damaging |
Het |
Slc5a8 |
G |
A |
10: 88,761,648 (GRCm39) |
|
probably null |
Het |
Slitrk3 |
T |
C |
3: 72,957,672 (GRCm39) |
R367G |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spata31 |
A |
G |
13: 65,068,953 (GRCm39) |
E367G |
probably benign |
Het |
Srrm3 |
A |
T |
5: 135,863,892 (GRCm39) |
|
probably null |
Het |
Ssmem1 |
T |
C |
6: 30,517,507 (GRCm39) |
S6P |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,821,034 (GRCm39) |
D6G |
probably benign |
Het |
Syt1 |
T |
C |
10: 108,419,776 (GRCm39) |
E295G |
probably damaging |
Het |
Tap2 |
A |
T |
17: 34,424,927 (GRCm39) |
I192F |
possibly damaging |
Het |
Tgoln1 |
C |
T |
6: 72,591,068 (GRCm39) |
R348H |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,134,389 (GRCm39) |
V1373I |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,089,854 (GRCm39) |
D613G |
possibly damaging |
Het |
Tmem62 |
T |
A |
2: 120,837,483 (GRCm39) |
Y597N |
probably benign |
Het |
Trhr2 |
T |
A |
8: 123,084,185 (GRCm39) |
T272S |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,372,198 (GRCm39) |
S3P |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,089,313 (GRCm39) |
I627N |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,478,076 (GRCm39) |
S3564P |
probably damaging |
Het |
Zfp467 |
T |
G |
6: 48,416,013 (GRCm39) |
E213A |
possibly damaging |
Het |
Zfp746 |
T |
G |
6: 48,041,411 (GRCm39) |
K437N |
probably damaging |
Het |
Zfp853 |
A |
G |
5: 143,274,840 (GRCm39) |
|
probably benign |
Het |
Zranb1 |
T |
A |
7: 132,551,496 (GRCm39) |
V49D |
probably benign |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAACTCGTGTAAGTTGGCAGCATC -3'
(R):5'- AGAACCGCTACTTTGAAATGGGACC -3'
Sequencing Primer
(F):5'- AGCGTGTTCTCACTGTGCC -3'
(R):5'- CCCCAGACGCAgaggaag -3'
|
Posted On |
2014-05-09 |