Incidental Mutation 'R3703:Nisch'
ID |
258627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nisch
|
Ensembl Gene |
ENSMUSG00000021910 |
Gene Name |
nischarin |
Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
MMRRC Submission |
040696-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3703 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 30898702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
[ENSMUST00000169906]
|
AlphaFold |
Q80TM9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: S893P
|
SMART Domains |
Protein: ENSMUSP00000022469 Gene: ENSMUSG00000021910 AA Change: S893P
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: S648P
|
SMART Domains |
Protein: ENSMUSP00000132842 Gene: ENSMUSG00000021910 AA Change: S648P
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 |
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 |
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 |
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
|
Meta Mutation Damage Score |
0.0735 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
C |
T |
8: 77,985,685 (GRCm39) |
|
probably null |
Het |
Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,932,991 (GRCm39) |
|
probably null |
Het |
Btnl7-ps |
T |
A |
17: 34,752,941 (GRCm39) |
|
noncoding transcript |
Het |
Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
Col25a1 |
A |
G |
3: 130,343,682 (GRCm39) |
|
probably null |
Het |
Csrp2 |
G |
A |
10: 110,773,735 (GRCm39) |
|
probably benign |
Het |
Ctla2a |
T |
A |
13: 61,083,821 (GRCm39) |
D37V |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
Dxo |
T |
C |
17: 35,057,745 (GRCm39) |
|
probably benign |
Het |
Edil3 |
A |
T |
13: 89,325,417 (GRCm39) |
M269L |
probably benign |
Het |
Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
Hnrnpul2 |
A |
G |
19: 8,801,773 (GRCm39) |
E327G |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,555,029 (GRCm39) |
Y884* |
probably null |
Het |
Ifi47 |
T |
C |
11: 48,986,352 (GRCm39) |
S40P |
probably benign |
Het |
Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Mug1 |
C |
T |
6: 121,865,515 (GRCm39) |
|
probably benign |
Het |
Myh2 |
A |
G |
11: 67,080,427 (GRCm39) |
I1214V |
probably benign |
Het |
Naa30 |
A |
G |
14: 49,425,059 (GRCm39) |
N337S |
probably benign |
Het |
Nap1l3 |
A |
T |
X: 121,305,221 (GRCm39) |
I499N |
possibly damaging |
Het |
Nfat5 |
T |
A |
8: 108,078,053 (GRCm39) |
|
probably benign |
Het |
Nt5c3 |
A |
G |
6: 56,860,652 (GRCm39) |
|
probably benign |
Het |
Pklr |
C |
T |
3: 89,050,008 (GRCm39) |
R328C |
probably damaging |
Het |
Prrc2c |
G |
A |
1: 162,538,260 (GRCm39) |
R457C |
probably damaging |
Het |
Rab1a |
T |
G |
11: 20,174,506 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
A |
T |
8: 13,638,972 (GRCm39) |
D278E |
probably benign |
Het |
Rdh8 |
C |
T |
9: 20,734,629 (GRCm39) |
P99S |
probably damaging |
Het |
Snx9 |
T |
A |
17: 5,978,475 (GRCm39) |
|
probably null |
Het |
Spns3 |
C |
T |
11: 72,390,356 (GRCm39) |
|
probably benign |
Het |
Sympk |
A |
G |
7: 18,774,486 (GRCm39) |
Y421C |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,394,729 (GRCm39) |
C495Y |
probably damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,851,030 (GRCm39) |
|
probably null |
Het |
Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
Trdmt1 |
T |
A |
2: 13,526,108 (GRCm39) |
Q170L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,565,752 (GRCm39) |
V28200D |
probably damaging |
Het |
Zfp616 |
G |
A |
11: 73,974,145 (GRCm39) |
W138* |
probably null |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
|
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'- ACTCGCAGGAAGTGGAATTTCTC -3'
(R):5'- CAGCTGCTCACCTTCTACAAG -3'
Sequencing Primer
(F):5'- AATTTCTCGTGGGGCAGCAC -3'
(R):5'- TTCTACAAGGTGGCCGGG -3'
|
Posted On |
2015-01-23 |