Incidental Mutation 'R7273:Nisch'
| ID |
565417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
045357-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30896364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 946
(V946A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022469
AA Change: V1191A
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1191A
| 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: ENSMUST00000167449
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168206
AA Change: V946A
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V946A
| 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 |
probably benign
Transcript: ENSMUST00000170436
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
| Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
| Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,284,467 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,151,167 (GRCm39) |
T141A |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
| Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
| Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
| Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
| Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
| Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
| Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
| Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
| Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
| Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
G |
15: 32,417,608 (GRCm39) |
D26G |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
| Spata31d1b |
G |
A |
13: 59,865,446 (GRCm39) |
V865I |
probably benign |
Het |
| Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
| Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
| Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
possibly damaging |
Het |
| Zhx2 |
C |
T |
15: 57,686,824 (GRCm39) |
A731V |
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 |
|
|
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'- TCAGGACTGACTGGTACCACAG -3'
(R):5'- GGTCTAACTTCAGCAGAGGC -3'
Sequencing Primer
(F):5'- CACACAAGTGCCAGTCAGGG -3'
(R):5'- CTCCAGCCGCAGCAGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation