Incidental Mutation 'R9134:Nisch'
| ID |
693863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9134 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TCTGCTGC to TCTGCTGCTGC
at 30896637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
|
| 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 |
probably benign
Transcript: ENSMUST00000167449
|
| 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 |
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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (54/57) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m1 |
A |
G |
8: 72,993,913 (GRCm39) |
|
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,470,392 (GRCm39) |
I122N |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Atad5 |
G |
A |
11: 80,023,931 (GRCm39) |
R1681K |
probably benign |
Het |
| Bpifb9b |
T |
C |
2: 154,151,441 (GRCm39) |
V54A |
probably benign |
Het |
| Cby3 |
A |
C |
11: 50,250,153 (GRCm39) |
T25P |
probably damaging |
Het |
| Ccdc138 |
T |
G |
10: 58,374,102 (GRCm39) |
L374R |
probably damaging |
Het |
| Cd84 |
T |
A |
1: 171,679,413 (GRCm39) |
N30K |
probably damaging |
Het |
| Cdk20 |
T |
A |
13: 64,580,906 (GRCm39) |
|
probably null |
Het |
| Chd9 |
A |
G |
8: 91,659,754 (GRCm39) |
H238R |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,228,716 (GRCm39) |
V929A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,237 (GRCm39) |
H276L |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,404,910 (GRCm39) |
L2544P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,978,972 (GRCm39) |
T1807A |
probably damaging |
Het |
| Dph7 |
C |
T |
2: 24,861,720 (GRCm39) |
H378Y |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,185,779 (GRCm39) |
I249V |
probably benign |
Het |
| Fam117a |
C |
A |
11: 95,271,745 (GRCm39) |
S439* |
probably null |
Het |
| Fam184a |
T |
G |
10: 53,573,344 (GRCm39) |
K345N |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,765,686 (GRCm39) |
R255G |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,325 (GRCm39) |
M55K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,562,321 (GRCm39) |
Y729H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,177 (GRCm39) |
T2989A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,547 (GRCm39) |
L145P |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,855,323 (GRCm39) |
V250E |
probably benign |
Het |
| Ide |
G |
T |
19: 37,273,561 (GRCm39) |
|
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,765 (GRCm39) |
S32G |
probably benign |
Het |
| Insr |
G |
A |
8: 3,308,413 (GRCm39) |
R208W |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,743,351 (GRCm39) |
R1674W |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,666,514 (GRCm39) |
V1153M |
unknown |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
C |
A |
4: 115,945,782 (GRCm39) |
Q166K |
possibly damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,820,183 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
C |
1: 173,699,096 (GRCm39) |
I190V |
unknown |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or14c39 |
C |
A |
7: 86,344,588 (GRCm39) |
S308* |
probably null |
Het |
| Or3a1 |
A |
G |
11: 74,225,670 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5b114-ps1 |
G |
T |
19: 13,352,613 (GRCm39) |
A96S |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,520,207 (GRCm39) |
|
probably benign |
Het |
| Pde4c |
G |
T |
8: 71,201,160 (GRCm39) |
V493F |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,182 (GRCm39) |
S487G |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prr23a1 |
T |
C |
9: 98,724,935 (GRCm39) |
L99P |
|
Het |
| Rex2 |
C |
G |
4: 147,142,643 (GRCm39) |
T377S |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,703,738 (GRCm39) |
F50L |
|
Het |
| Srgap1 |
A |
G |
10: 121,883,127 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,791 (GRCm39) |
N358D |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,835,326 (GRCm39) |
T151S |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,469,201 (GRCm39) |
I974N |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,321 (GRCm39) |
V338A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,097,160 (GRCm39) |
D54V |
probably damaging |
Het |
| Trav6-2 |
T |
A |
14: 52,905,109 (GRCm39) |
C43* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,127,755 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,884 (GRCm39) |
W268R |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,832,093 (GRCm39) |
L232S |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,921,225 (GRCm39) |
T325A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,377,659 (GRCm39) |
V438A |
probably damaging |
Het |
| Wdcp |
C |
A |
12: 4,901,533 (GRCm39) |
S463* |
probably null |
Het |
| Xkr4 |
C |
T |
1: 3,740,860 (GRCm39) |
G238S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,886 (GRCm39) |
N179S |
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 |
|
|
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'- TGGATTAGGCGCTCACTTGG -3'
(R):5'- CACTTGGCATTTCTTGGGTC -3'
Sequencing Primer
(F):5'- CTCACTTGGGTACTGGGCAG -3'
(R):5'- AGCGGCTACAGGAGACC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation