Incidental Mutation 'R6258:Nisch'
| ID |
506499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
044375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6258 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 30899085 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: H765L
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: H765L
| 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: H520L
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: H520L
| 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: 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: 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 |
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 |
0.3301 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (74/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
T |
6: 85,605,717 (GRCm39) |
K2456* |
probably null |
Het |
| Alppl2 |
A |
T |
1: 87,016,184 (GRCm39) |
M225K |
probably damaging |
Het |
| AU041133 |
A |
G |
10: 81,986,992 (GRCm39) |
E215G |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,737,889 (GRCm39) |
L815Q |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,337,971 (GRCm39) |
C60R |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,117,093 (GRCm39) |
K84E |
probably damaging |
Het |
| Cdc73 |
G |
A |
1: 143,567,211 (GRCm39) |
T104I |
probably benign |
Het |
| Clcc1 |
G |
A |
3: 108,580,624 (GRCm39) |
V313I |
possibly damaging |
Het |
| Cntn3 |
A |
G |
6: 102,254,178 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
A |
G |
1: 93,141,360 (GRCm39) |
K1171R |
possibly damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,281 (GRCm39) |
V86A |
probably damaging |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 118,017,148 (GRCm39) |
W197C |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,150 (GRCm39) |
W197R |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,017,149 (GRCm39) |
W197* |
probably null |
Het |
| Egflam |
T |
A |
15: 7,263,773 (GRCm39) |
T726S |
probably damaging |
Het |
| Eml2 |
T |
G |
7: 18,913,289 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
A |
14: 32,279,813 (GRCm39) |
D609E |
probably benign |
Het |
| Erg |
C |
A |
16: 95,181,100 (GRCm39) |
R147L |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,114,513 (GRCm39) |
I125M |
possibly damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,455,537 (GRCm39) |
L549H |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,702,825 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
T |
A |
10: 93,880,161 (GRCm39) |
N338K |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm32742 |
T |
A |
9: 51,068,862 (GRCm39) |
I200F |
probably damaging |
Het |
| Gm4924 |
T |
G |
10: 82,213,307 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
G |
A |
19: 11,488,973 (GRCm39) |
A87T |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,634,994 (GRCm39) |
I304F |
unknown |
Het |
| Ighv5-8 |
A |
G |
12: 113,618,611 (GRCm39) |
T9A |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jakmip1 |
G |
T |
5: 37,299,104 (GRCm39) |
E775* |
probably null |
Het |
| Klhl40 |
T |
C |
9: 121,607,026 (GRCm39) |
F62S |
probably damaging |
Het |
| Krtcap3 |
A |
T |
5: 31,409,572 (GRCm39) |
R84W |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,360,496 (GRCm39) |
|
probably null |
Het |
| Magi3 |
A |
G |
3: 103,996,912 (GRCm39) |
L211P |
probably damaging |
Het |
| Map2k5 |
T |
A |
9: 63,124,647 (GRCm39) |
I359F |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,878,336 (GRCm39) |
R355L |
probably benign |
Het |
| Mef2c |
T |
A |
13: 83,801,057 (GRCm39) |
D252E |
probably damaging |
Het |
| Methig1 |
T |
C |
15: 100,251,422 (GRCm39) |
V111A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,985,991 (GRCm39) |
L150Q |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,456,581 (GRCm39) |
|
probably null |
Het |
| Or4f15 |
C |
T |
2: 111,814,396 (GRCm39) |
V8I |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,758,181 (GRCm39) |
N300D |
probably damaging |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,892 (GRCm39) |
V346A |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,316,546 (GRCm39) |
D168G |
possibly damaging |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,733,238 (GRCm39) |
S504P |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,575,526 (GRCm39) |
A341D |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,854,324 (GRCm39) |
D68G |
probably damaging |
Het |
| Rcor3 |
G |
A |
1: 191,808,559 (GRCm39) |
H207Y |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,449 (GRCm39) |
F3795S |
probably damaging |
Het |
| Samm50 |
C |
G |
15: 84,084,512 (GRCm39) |
P150A |
probably damaging |
Het |
| Samm50 |
C |
A |
15: 84,084,513 (GRCm39) |
P150H |
probably damaging |
Het |
| Slc28a2b |
A |
T |
2: 122,353,963 (GRCm39) |
I530F |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,818,164 (GRCm39) |
C284* |
probably null |
Het |
| Smc3 |
T |
A |
19: 53,616,162 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,089,613 (GRCm39) |
|
probably null |
Het |
| Spdl1 |
T |
A |
11: 34,710,713 (GRCm39) |
N345I |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,778 (GRCm39) |
L102P |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,937,145 (GRCm39) |
W76R |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,686,530 (GRCm39) |
Y696N |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,595,655 (GRCm39) |
T492A |
probably benign |
Het |
| Trdmt1 |
T |
A |
2: 13,524,870 (GRCm39) |
Q195L |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,813,208 (GRCm39) |
|
probably null |
Het |
| Ung |
A |
T |
5: 114,275,361 (GRCm39) |
Y250F |
probably benign |
Het |
| Vezf1 |
A |
G |
11: 87,972,326 (GRCm39) |
N229S |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
| Wdr97 |
C |
A |
15: 76,239,895 (GRCm39) |
S277* |
probably null |
Het |
| Zfp1007 |
T |
C |
5: 109,824,433 (GRCm39) |
H339R |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
| Zscan4-ps1 |
C |
A |
7: 10,799,829 (GRCm39) |
E353D |
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 |
|
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'- CTTGTAGAAGGTGAGCAGCTG -3'
(R):5'- TCAAGGTGCTCTGGTGCTTC -3'
Sequencing Primer
(F):5'- CAAGAACTCCTGCAGGGTG -3'
(R):5'- TTCCTGATCCACGTGCAAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation