Incidental Mutation 'R4412:Nisch'
| ID |
327984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 30908615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000164989]
[ENSMUST00000165981]
[ENSMUST00000168206]
[ENSMUST00000172142]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022469
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
| 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: ENSMUST00000163846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164956
|
| 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 |
unknown
Transcript: ENSMUST00000165981
AA Change: V470A
|
| SMART Domains |
Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: V470A
| 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: ENSMUST00000167223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167979
|
| 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: 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: 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: ENSMUST00000168451
|
| SMART Domains |
Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
4 |
53 |
5.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172142
|
| SMART Domains |
Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
| 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 |
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: ENSMUST00000170436
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,449,302 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,485,939 (GRCm39) |
I2T |
possibly damaging |
Het |
| Chdh |
G |
T |
14: 29,753,672 (GRCm39) |
G194C |
probably damaging |
Het |
| Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,266,962 (GRCm39) |
K132E |
possibly damaging |
Het |
| Cyp2b9 |
T |
G |
7: 25,897,868 (GRCm39) |
L224R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,981,828 (GRCm39) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,964,509 (GRCm39) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,642,074 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,909,372 (GRCm39) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,476,636 (GRCm39) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,747,047 (GRCm39) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,491,915 (GRCm39) |
H593R |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,407,444 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,738,645 (GRCm39) |
M139T |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,142,368 (GRCm39) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,310,856 (GRCm39) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,010,156 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,207,807 (GRCm39) |
N33S |
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm39) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or4c1 |
A |
G |
2: 89,133,684 (GRCm39) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 62,140,406 (GRCm39) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,547,194 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,857,294 (GRCm39) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm39) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,077,655 (GRCm39) |
N172K |
possibly damaging |
Het |
| Sin3b |
C |
T |
8: 73,466,407 (GRCm39) |
A291V |
probably benign |
Het |
| Slc12a6 |
A |
T |
2: 112,166,233 (GRCm39) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,958,669 (GRCm39) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,152,834 (GRCm39) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,364,073 (GRCm39) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,065,199 (GRCm39) |
R236H |
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 |
|
|
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'- GGAAACAATCTTTCTGTGCCC -3'
(R):5'- TTGGATGAGGTCAAGAGCATTG -3'
Sequencing Primer
(F):5'- GAAACAATCTTTCTGTGCCCATGTG -3'
(R):5'- AGCGTTTGACCTTGCTGAACAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation