Incidental Mutation 'R9153:Nisch'
| ID |
695178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
068940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30896782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 807
(T807A)
|
| 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: T1052A
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: T1052A
| 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: T807A
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: T807A
| 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 |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,481 (GRCm39) |
S711R |
possibly damaging |
Het |
| Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,259,229 (GRCm39) |
T618A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,302,845 (GRCm39) |
R58W |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,308,493 (GRCm39) |
|
probably benign |
Het |
| Borcs5 |
G |
T |
6: 134,618,108 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,906 (GRCm39) |
M25V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,188,162 (GRCm39) |
D527E |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,382,152 (GRCm39) |
D24N |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,159 (GRCm39) |
T703I |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,774,479 (GRCm39) |
S19G |
possibly damaging |
Het |
| Cdc25b |
G |
A |
2: 131,034,564 (GRCm39) |
E264K |
possibly damaging |
Het |
| Cdhr17 |
A |
T |
5: 17,040,916 (GRCm39) |
|
probably null |
Het |
| Cog5 |
A |
C |
12: 31,710,810 (GRCm39) |
K63N |
possibly damaging |
Het |
| Col28a1 |
G |
A |
6: 8,022,765 (GRCm39) |
T726I |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,365 (GRCm39) |
S219P |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,536,569 (GRCm39) |
W2162R |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,789,774 (GRCm39) |
*464R |
probably null |
Het |
| Eif1a |
T |
A |
18: 46,741,036 (GRCm39) |
D90E |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,706,496 (GRCm39) |
R996Q |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,787 (GRCm39) |
|
probably null |
Het |
| Frat2 |
A |
G |
19: 41,835,806 (GRCm39) |
L182P |
probably damaging |
Het |
| Fxyd2 |
G |
T |
9: 45,319,609 (GRCm39) |
V24F |
probably damaging |
Het |
| Gabrd |
C |
T |
4: 155,470,496 (GRCm39) |
V319I |
probably damaging |
Het |
| H13 |
T |
G |
2: 152,533,788 (GRCm39) |
V267G |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,573,378 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,125,421 (GRCm39) |
T272S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,844,547 (GRCm39) |
M454L |
probably benign |
Het |
| Irf8 |
T |
C |
8: 121,480,400 (GRCm39) |
C304R |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,001,941 (GRCm39) |
F614L |
probably benign |
Het |
| Itgb4 |
A |
C |
11: 115,874,879 (GRCm39) |
H412P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,678 (GRCm39) |
F921S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,541,327 (GRCm39) |
D189G |
probably damaging |
Het |
| Meis2 |
G |
T |
2: 115,697,756 (GRCm39) |
P381T |
probably benign |
Het |
| Mertk |
G |
T |
2: 128,624,487 (GRCm39) |
A633S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,942,993 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,627 (GRCm39) |
T455S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,404,744 (GRCm39) |
N700S |
probably benign |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,703 (GRCm39) |
V195E |
unknown |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,514,429 (GRCm39) |
T126A |
possibly damaging |
Het |
| Oca2 |
C |
T |
7: 55,943,586 (GRCm39) |
T253I |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,286,733 (GRCm39) |
K166R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,306 (GRCm39) |
I103N |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,203,112 (GRCm39) |
K435R |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,131 (GRCm39) |
N175K |
possibly damaging |
Het |
| Per3 |
A |
G |
4: 151,111,796 (GRCm39) |
L396P |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,925,739 (GRCm39) |
E338V |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,064,725 (GRCm39) |
R1782S |
unknown |
Het |
| Prpf39 |
A |
T |
12: 65,106,671 (GRCm39) |
Q593L |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,416,126 (GRCm39) |
Y1724C |
probably damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,143 (GRCm39) |
V110D |
possibly damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,826,790 (GRCm39) |
L133Q |
probably damaging |
Het |
| Rgs10 |
G |
A |
7: 127,975,733 (GRCm39) |
R145C |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,833,855 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,293,188 (GRCm39) |
T843S |
probably benign |
Het |
| Senp7 |
G |
A |
16: 56,006,486 (GRCm39) |
V964I |
probably benign |
Het |
| Setd4 |
T |
A |
16: 93,384,722 (GRCm39) |
D322V |
possibly damaging |
Het |
| Sftpc |
T |
A |
14: 70,759,650 (GRCm39) |
T90S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,738 (GRCm39) |
D382E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,029 (GRCm39) |
R13G |
probably damaging |
Het |
| Slc12a1 |
T |
G |
2: 125,002,989 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,805 (GRCm39) |
F385S |
probably benign |
Het |
| Stk38l |
A |
G |
6: 146,660,048 (GRCm39) |
T27A |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,899,327 (GRCm39) |
S9P |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,290 (GRCm39) |
D114V |
probably damaging |
Het |
| Tmigd1 |
A |
T |
11: 76,795,468 (GRCm39) |
R25S |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,773,519 (GRCm39) |
Y1154N |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,045,091 (GRCm39) |
V3A |
|
Het |
| Ubr1 |
A |
T |
2: 120,756,469 (GRCm39) |
D719E |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,822 (GRCm39) |
K923R |
|
Het |
| Vmn2r12 |
C |
T |
5: 109,234,203 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,876,522 (GRCm39) |
S9P |
probably benign |
Het |
| Zfp986 |
A |
T |
4: 145,626,030 (GRCm39) |
H230L |
probably damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,241 (GRCm39) |
E216K |
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 |
|
|
R9134:Nisch
|
UTSW |
14 |
30,896,637 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TTAGGCGCTCACTTGGGTAC -3'
(R):5'- CTCCAAGAGTAGCATGGACTGTAC -3'
Sequencing Primer
(F):5'- CTCACTTGGGTACTGGGCAG -3'
(R):5'- AGCATGGACTGTACAGGTGTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation