Incidental Mutation 'R7887:Nisch'
| ID |
609133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
045939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 30898652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 664
(W664*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022469
AA Change: W909*
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: W909*
| 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 null
Transcript: ENSMUST00000168206
AA Change: W664*
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: W664*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,385,343 (GRCm39) |
I580N |
probably damaging |
Het |
| Ankrd35 |
C |
T |
3: 96,592,216 (GRCm39) |
T834M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,563,103 (GRCm39) |
V893I |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,501 (GRCm39) |
Y197H |
probably benign |
Het |
| Brdt |
T |
C |
5: 107,507,799 (GRCm39) |
S676P |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,678,457 (GRCm39) |
V343A |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,394,433 (GRCm39) |
M59K |
probably benign |
Het |
| Cpne4 |
A |
T |
9: 104,909,990 (GRCm39) |
N529I |
probably damaging |
Het |
| Crcp |
G |
T |
5: 130,066,711 (GRCm39) |
K32N |
possibly damaging |
Het |
| Ddx54 |
C |
T |
5: 120,765,268 (GRCm39) |
R846C |
probably damaging |
Het |
| Dennd6a |
T |
C |
14: 26,320,812 (GRCm39) |
S118P |
possibly damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,651 (GRCm39) |
Y116C |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,478,662 (GRCm39) |
|
probably null |
Het |
| Focad |
T |
G |
4: 88,100,853 (GRCm39) |
I313M |
probably damaging |
Het |
| Gm10272 |
C |
T |
10: 77,542,779 (GRCm39) |
P107L |
probably benign |
Het |
| Gpr26 |
A |
C |
7: 131,568,702 (GRCm39) |
I16L |
probably benign |
Het |
| Gpr39 |
C |
A |
1: 125,605,279 (GRCm39) |
T69K |
probably damaging |
Het |
| Hacl1 |
C |
T |
14: 31,356,184 (GRCm39) |
G97S |
probably damaging |
Het |
| Idh3b |
A |
C |
2: 130,123,678 (GRCm39) |
D136E |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,850,040 (GRCm39) |
V321M |
probably damaging |
Het |
| Klrg2 |
T |
A |
6: 38,613,506 (GRCm39) |
T166S |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,955,853 (GRCm39) |
I648V |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,588,177 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
T |
A |
12: 73,234,965 (GRCm39) |
S205T |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,097 (GRCm39) |
G204D |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Nid1 |
G |
T |
13: 13,674,318 (GRCm39) |
R899L |
possibly damaging |
Het |
| Nudt6 |
C |
T |
3: 37,466,529 (GRCm39) |
V157I |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
| Or51h7 |
A |
C |
7: 102,591,358 (GRCm39) |
L142R |
possibly damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,224 (GRCm39) |
M118V |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,175 (GRCm39) |
M107L |
unknown |
Het |
| Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
| Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
| Phf11d |
A |
G |
14: 59,597,029 (GRCm39) |
Y57H |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,713,524 (GRCm39) |
V99A |
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,393,287 (GRCm39) |
C209S |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,228,363 (GRCm39) |
|
probably null |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,255,133 (GRCm39) |
Y872C |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,099,410 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
G |
6: 137,716,807 (GRCm39) |
L129V |
possibly damaging |
Het |
| Sympk |
T |
C |
7: 18,768,364 (GRCm39) |
I111T |
possibly damaging |
Het |
| Tprn |
C |
A |
2: 25,154,024 (GRCm39) |
A442E |
probably damaging |
Het |
| Tsen34 |
T |
C |
7: 3,697,707 (GRCm39) |
L36P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,121 (GRCm39) |
F818L |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,247,115 (GRCm39) |
Y294C |
probably damaging |
Het |
| Usp20 |
A |
G |
2: 30,910,906 (GRCm39) |
K862E |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,956 (GRCm39) |
I57F |
probably damaging |
Het |
| Wdr64 |
C |
T |
1: 175,613,111 (GRCm39) |
A662V |
not run |
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 |
|
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'- CTCGCAGGAAGTGGAATTTCTC -3'
(R):5'- CAGCTGCTCACCTTCTACAAG -3'
Sequencing Primer
(F):5'- AATTTCTCGTGGGGCAGCAC -3'
(R):5'- TTCTACAAGGTGGCCGGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation