Incidental Mutation 'R9240:Nisch'
ID |
700708 |
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 # |
R9240 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30906988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 236
(L236P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000168206]
[ENSMUST00000172142]
|
AlphaFold |
Q80TM9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: L481P
|
SMART Domains |
Protein: ENSMUSP00000022469 Gene: ENSMUSG00000021910 AA Change: L481P
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: ENSMUST00000164989
|
SMART Domains |
Protein: ENSMUSP00000126982 Gene: ENSMUSG00000021910
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 |
probably benign
Transcript: ENSMUST00000165981
|
SMART Domains |
Protein: ENSMUSP00000130210 Gene: ENSMUSG00000021910
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 |
unknown
Transcript: ENSMUST00000168206
AA Change: L236P
|
SMART Domains |
Protein: ENSMUSP00000132842 Gene: ENSMUSG00000021910 AA Change: L236P
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: 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 |
|
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172142
AA Change: L481P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132413 Gene: ENSMUSG00000021910 AA Change: L481P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
A |
G |
8: 46,966,406 (GRCm39) |
I187V |
probably benign |
Het |
Adam7 |
C |
A |
14: 68,747,208 (GRCm39) |
V584L |
probably benign |
Het |
Arsg |
T |
A |
11: 109,463,093 (GRCm39) |
V451E |
probably benign |
Het |
Btbd8 |
A |
G |
5: 107,600,034 (GRCm39) |
D175G |
probably benign |
Het |
Cacnb3 |
C |
T |
15: 98,540,486 (GRCm39) |
P338L |
probably benign |
Het |
Cars1 |
G |
T |
7: 143,138,533 (GRCm39) |
P218Q |
probably benign |
Het |
Ccdc180 |
T |
C |
4: 45,917,566 (GRCm39) |
|
probably null |
Het |
Cdh23 |
C |
T |
10: 60,215,044 (GRCm39) |
D1431N |
probably benign |
Het |
Cenpf |
A |
T |
1: 189,389,167 (GRCm39) |
V1555D |
probably benign |
Het |
Creb3l2 |
T |
C |
6: 37,311,506 (GRCm39) |
N428D |
possibly damaging |
Het |
Crebbp |
A |
T |
16: 3,917,537 (GRCm39) |
|
probably null |
Het |
Cstf1 |
C |
A |
2: 172,217,669 (GRCm39) |
P94Q |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,447 (GRCm39) |
|
probably null |
Het |
Dlc1 |
A |
T |
8: 37,052,005 (GRCm39) |
D124E |
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
Eea1 |
T |
G |
10: 95,776,824 (GRCm39) |
I5S |
probably benign |
Het |
F7 |
A |
T |
8: 13,085,173 (GRCm39) |
T400S |
probably damaging |
Het |
Fbxo38 |
C |
A |
18: 62,651,632 (GRCm39) |
E558* |
probably null |
Het |
Fcgr2b |
C |
T |
1: 170,797,042 (GRCm39) |
|
probably null |
Het |
Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
Flt1 |
T |
C |
5: 147,618,676 (GRCm39) |
N220D |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,812 (GRCm39) |
Y358H |
probably damaging |
Het |
Gcc2 |
C |
T |
10: 58,106,398 (GRCm39) |
Q545* |
probably null |
Het |
Gkn3 |
T |
C |
6: 87,365,789 (GRCm39) |
N10S |
probably benign |
Het |
Gls |
C |
G |
1: 52,207,553 (GRCm39) |
V604L |
probably benign |
Het |
Gtf2i |
T |
A |
5: 134,292,619 (GRCm39) |
Q375L |
probably benign |
Het |
Hells |
A |
G |
19: 38,935,289 (GRCm39) |
M320V |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,310,410 (GRCm39) |
S497G |
possibly damaging |
Het |
Iqub |
C |
A |
6: 24,505,622 (GRCm39) |
L95F |
probably benign |
Het |
Mat1a |
G |
A |
14: 40,827,573 (GRCm39) |
C9Y |
probably benign |
Het |
Mfsd4b5 |
A |
G |
10: 39,851,099 (GRCm39) |
L103P |
probably damaging |
Het |
Ms4a14 |
T |
C |
19: 11,281,864 (GRCm39) |
I231M |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,449,309 (GRCm39) |
T7580A |
unknown |
Het |
Myb |
A |
T |
10: 21,016,500 (GRCm39) |
L670Q |
probably damaging |
Het |
Or5d38 |
A |
C |
2: 87,955,231 (GRCm39) |
F33V |
probably benign |
Het |
Plscr4 |
A |
T |
9: 92,366,934 (GRCm39) |
M183L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,940,661 (GRCm39) |
C998* |
probably null |
Het |
Prokr2 |
A |
T |
2: 132,223,377 (GRCm39) |
V55E |
possibly damaging |
Het |
Prr12 |
A |
T |
7: 44,684,075 (GRCm39) |
V1655E |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
Rspo1 |
C |
T |
4: 124,885,132 (GRCm39) |
L3F |
probably benign |
Het |
Rtn4rl1 |
C |
A |
11: 75,156,082 (GRCm39) |
D171E |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,743,313 (GRCm39) |
F3895L |
probably damaging |
Het |
Scn8a |
G |
T |
15: 100,915,068 (GRCm39) |
G1211* |
probably null |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Smarcd3 |
T |
A |
5: 24,801,831 (GRCm39) |
M103L |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,739,031 (GRCm39) |
S3458T |
probably benign |
Het |
Smg6 |
C |
T |
11: 74,825,884 (GRCm39) |
R738W |
probably damaging |
Het |
Spef2 |
G |
A |
15: 9,578,401 (GRCm39) |
Q1708* |
probably null |
Het |
Taf2 |
A |
T |
15: 54,926,464 (GRCm39) |
V162E |
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,032,748 (GRCm39) |
N154K |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,818,960 (GRCm39) |
S532G |
probably benign |
Het |
Tedc1 |
T |
C |
12: 113,121,310 (GRCm39) |
I177T |
probably benign |
Het |
Tnrc6b |
G |
C |
15: 80,764,262 (GRCm39) |
G588A |
probably damaging |
Het |
Top2a |
T |
A |
11: 98,901,368 (GRCm39) |
K519* |
probably null |
Het |
Trim47 |
T |
A |
11: 115,999,148 (GRCm39) |
M243L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,865 (GRCm39) |
|
probably null |
Het |
Uggt1 |
T |
C |
1: 36,221,696 (GRCm39) |
E624G |
possibly damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r9 |
A |
G |
5: 108,996,099 (GRCm39) |
V183A |
possibly damaging |
Het |
Zfp212 |
T |
A |
6: 47,906,032 (GRCm39) |
V197E |
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 |
|
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 |
|
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'- AAGCAGGTGCCAGCATTTC -3'
(R):5'- AAACTGAGCCATGGGATCCC -3'
Sequencing Primer
(F):5'- AGGTGCCAGCATTTCTCTCAC -3'
(R):5'- CCTCGGGGATCTCTGAGCATTAG -3'
|
Posted On |
2022-02-07 |