Incidental Mutation 'R4752:Nisch'
ID |
357695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nisch
|
Ensembl Gene |
ENSMUSG00000021910 |
Gene Name |
nischarin |
Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
MMRRC Submission |
042032-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4752 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30914545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 42
(F42L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000168206]
[ENSMUST00000172142]
|
AlphaFold |
Q80TM9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: F135L
|
SMART Domains |
Protein: ENSMUSP00000022469 Gene: ENSMUSG00000021910 AA Change: F135L
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: F135L
|
SMART Domains |
Protein: ENSMUSP00000126982 Gene: ENSMUSG00000021910 AA Change: F135L
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: F135L
|
SMART Domains |
Protein: ENSMUSP00000130210 Gene: ENSMUSG00000021910 AA Change: F135L
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 |
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 |
probably damaging
Transcript: ENSMUST00000169149
AA Change: F42L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131623 Gene: ENSMUSG00000021910 AA Change: F42L
Domain | Start | End | E-Value | Type |
Blast:PX
|
2 |
27 |
1e-10 |
BLAST |
PDB:3P0C|B
|
2 |
33 |
7e-12 |
PDB |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000172142
AA Change: F135L
|
SMART Domains |
Protein: ENSMUSP00000132413 Gene: ENSMUSG00000021910 AA Change: F135L
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: ENSMUST00000172370
|
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 |
|
Meta Mutation Damage Score |
0.1526 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (68/69) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,775,751 (GRCm39) |
Q1647K |
possibly damaging |
Het |
Abcf3 |
A |
G |
16: 20,369,326 (GRCm39) |
E236G |
probably damaging |
Het |
Adamts17 |
A |
G |
7: 66,654,218 (GRCm39) |
T483A |
probably damaging |
Het |
Ankrd26 |
G |
T |
6: 118,517,426 (GRCm39) |
P465Q |
probably null |
Het |
Babam2 |
C |
T |
5: 31,859,391 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
T |
A |
2: 154,058,200 (GRCm39) |
|
probably benign |
Het |
Ccnb1ip1 |
T |
A |
14: 51,031,122 (GRCm39) |
T64S |
possibly damaging |
Het |
Cdhr3 |
A |
G |
12: 33,136,102 (GRCm39) |
V46A |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,584,254 (GRCm39) |
D708E |
probably benign |
Het |
Cpsf6 |
A |
T |
10: 117,197,273 (GRCm39) |
|
probably benign |
Het |
Cryzl2 |
C |
T |
1: 157,286,219 (GRCm39) |
|
probably null |
Het |
Dgka |
A |
T |
10: 128,572,528 (GRCm39) |
F42I |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,112,491 (GRCm39) |
V1059E |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dock4 |
T |
A |
12: 40,496,364 (GRCm39) |
I3K |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
Eif2b4 |
G |
A |
5: 31,348,575 (GRCm39) |
R213* |
probably null |
Het |
Eif3b |
A |
G |
5: 140,426,856 (GRCm39) |
D704G |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,437,197 (GRCm39) |
E125G |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,434,153 (GRCm39) |
N412S |
probably benign |
Het |
Fbln2 |
A |
G |
6: 91,233,225 (GRCm39) |
M570V |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
Hook2 |
C |
T |
8: 85,729,349 (GRCm39) |
Q632* |
probably null |
Het |
Ipcef1 |
A |
T |
10: 6,929,573 (GRCm39) |
W56R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,637 (GRCm39) |
I418M |
probably benign |
Het |
Limk1 |
G |
A |
5: 134,699,295 (GRCm39) |
T154I |
probably damaging |
Het |
Lyl1 |
A |
T |
8: 85,430,910 (GRCm39) |
T271S |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,336,895 (GRCm39) |
I333V |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,565,259 (GRCm39) |
T236A |
probably benign |
Het |
Nbas |
A |
G |
12: 13,532,538 (GRCm39) |
T1749A |
possibly damaging |
Het |
Nfib |
T |
A |
4: 82,215,016 (GRCm39) |
Q529L |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,706,626 (GRCm39) |
Y547N |
probably damaging |
Het |
Or10g3 |
C |
T |
14: 52,609,764 (GRCm39) |
V249I |
probably damaging |
Het |
Or13a24 |
T |
C |
7: 140,154,515 (GRCm39) |
S150P |
possibly damaging |
Het |
Or5l14 |
A |
G |
2: 87,792,693 (GRCm39) |
L181P |
probably damaging |
Het |
Or8g51 |
T |
C |
9: 38,609,266 (GRCm39) |
Y136C |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,709,563 (GRCm39) |
N117I |
probably damaging |
Het |
Prkn |
T |
C |
17: 12,223,010 (GRCm39) |
S387P |
probably benign |
Het |
Prl3c1 |
A |
T |
13: 27,387,508 (GRCm39) |
K164N |
probably benign |
Het |
Prr23a3 |
T |
A |
9: 98,747,700 (GRCm39) |
L218Q |
probably damaging |
Het |
Prss43 |
A |
G |
9: 110,656,836 (GRCm39) |
H114R |
possibly damaging |
Het |
Ptcd3 |
A |
T |
6: 71,878,296 (GRCm39) |
M142K |
probably damaging |
Het |
Shisa7 |
G |
A |
7: 4,837,249 (GRCm39) |
T89I |
possibly damaging |
Het |
Slco1a1 |
C |
T |
6: 141,892,340 (GRCm39) |
A9T |
possibly damaging |
Het |
Srcap |
C |
T |
7: 127,158,172 (GRCm39) |
|
probably benign |
Het |
Tdg-ps |
G |
A |
15: 82,400,572 (GRCm39) |
|
noncoding transcript |
Het |
Tgm4 |
A |
G |
9: 122,880,451 (GRCm39) |
D284G |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,804,013 (GRCm39) |
I355F |
probably benign |
Het |
Tmem121b |
A |
T |
6: 120,469,995 (GRCm39) |
F241I |
possibly damaging |
Het |
Tmem200c |
T |
A |
17: 69,149,235 (GRCm39) |
V606E |
probably benign |
Het |
Ttc39c |
A |
G |
18: 12,861,782 (GRCm39) |
K370R |
probably benign |
Het |
Vmn2r87 |
G |
A |
10: 130,314,336 (GRCm39) |
Q417* |
probably null |
Het |
Vps45 |
T |
C |
3: 95,955,699 (GRCm39) |
Y97C |
possibly damaging |
Het |
Zfp407 |
A |
G |
18: 84,581,039 (GRCm39) |
S25P |
probably benign |
Het |
Zfp566 |
A |
G |
7: 29,777,306 (GRCm39) |
S292P |
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 |
|
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 |
|
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'- TTCACCTGCAGGGCAAGTAG -3'
(R):5'- CATTCCGACATCCAGAGATCCG -3'
Sequencing Primer
(F):5'- TAGGTGGGTAGCCGGGAC -3'
(R):5'- CCAGAGATCCGAAAATACTTGGTTC -3'
|
Posted On |
2015-11-11 |