Incidental Mutation 'R5754:Nisch'
ID |
444966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nisch
|
Ensembl Gene |
ENSMUSG00000021910 |
Gene Name |
nischarin |
Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5754 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 30913373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000168206]
[ENSMUST00000172142]
|
AlphaFold |
Q80TM9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: L182Q
|
SMART Domains |
Protein: ENSMUSP00000022469 Gene: ENSMUSG00000021910 AA Change: L182Q
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: ENSMUST00000164956
|
Predicted Effect |
unknown
Transcript: ENSMUST00000164989
AA Change: L182Q
|
SMART Domains |
Protein: ENSMUSP00000126982 Gene: ENSMUSG00000021910 AA Change: L182Q
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: L182Q
|
SMART Domains |
Protein: ENSMUSP00000130210 Gene: ENSMUSG00000021910 AA Change: L182Q
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: ENSMUST00000167979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168206
|
SMART Domains |
Protein: ENSMUSP00000132842 Gene: ENSMUSG00000021910
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: ENSMUST00000168451
|
SMART Domains |
Protein: ENSMUSP00000132912 Gene: ENSMUSG00000021910
Domain | Start | End | E-Value | Type |
Pfam:PX
|
4 |
53 |
5.5e-8 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000172142
AA Change: L182Q
|
SMART Domains |
Protein: ENSMUSP00000132413 Gene: ENSMUSG00000021910 AA Change: L182Q
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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.8979 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (61/62) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
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 |
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 |
|
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'- ACAGTATTGAGACAGTGGGC -3'
(R):5'- AACAGGCTGGGACTGAGTCTAG -3'
Sequencing Primer
(F):5'- TATTGAGACAGTGGGCCCTGC -3'
(R):5'- CTGGGACTGAGTCTAGACACTTAC -3'
|
Posted On |
2016-11-21 |