Incidental Mutation 'R9663:Nisch'
| ID |
727709 |
| 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 # |
R9663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30895625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1022
(A1022S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022469
AA Change: A1267S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: A1267S
| 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 damaging
Transcript: ENSMUST00000167449
AA Change: A21S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168206
AA Change: A1022S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: A1022S
| 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 damaging
Transcript: ENSMUST00000169628
AA Change: A35S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: A35S
| 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: 99.6%
- 20x: 98.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
T |
C |
7: 30,013,371 (GRCm39) |
S161P |
probably damaging |
Het |
| Alppl2 |
T |
A |
1: 87,015,753 (GRCm39) |
H297L |
probably benign |
Het |
| Angptl2 |
A |
G |
2: 33,118,231 (GRCm39) |
R2G |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,845,255 (GRCm39) |
N199I |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,680,132 (GRCm39) |
I328K |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,971,540 (GRCm39) |
T734K |
probably benign |
Het |
| Capn3 |
A |
C |
2: 120,316,859 (GRCm39) |
M283L |
probably benign |
Het |
| Catsperd |
T |
A |
17: 56,960,751 (GRCm39) |
C384S |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,911,222 (GRCm39) |
V816A |
probably benign |
Het |
| Cd5 |
T |
G |
19: 10,703,858 (GRCm39) |
D68A |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,288,764 (GRCm39) |
V172M |
probably damaging |
Het |
| Cfap100 |
G |
A |
6: 90,386,328 (GRCm39) |
R276C |
|
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Creb3l2 |
A |
G |
6: 37,356,926 (GRCm39) |
V47A |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,933,654 (GRCm39) |
E1017D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,011,461 (GRCm39) |
D116G |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,079,070 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 38,982,178 (GRCm39) |
T48I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,205 (GRCm39) |
D598V |
probably damaging |
Het |
| Dtx3 |
G |
A |
10: 127,028,518 (GRCm39) |
T237I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,764 (GRCm39) |
E432G |
possibly damaging |
Het |
| Eps15 |
G |
A |
4: 109,179,270 (GRCm39) |
V219I |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Fam151a |
A |
T |
4: 106,604,894 (GRCm39) |
I419L |
possibly damaging |
Het |
| Fam89a |
C |
T |
8: 125,478,436 (GRCm39) |
G38D |
probably damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,717 (GRCm39) |
A29E |
probably benign |
Het |
| Hhla1 |
G |
A |
15: 65,813,630 (GRCm39) |
T234I |
probably damaging |
Het |
| Hspb6 |
G |
A |
7: 30,253,714 (GRCm39) |
V76M |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,315,325 (GRCm39) |
K698N |
probably benign |
Het |
| Invs |
A |
G |
4: 48,426,218 (GRCm39) |
I1002V |
probably damaging |
Het |
| Itga8 |
A |
C |
2: 12,196,580 (GRCm39) |
F612L |
probably benign |
Het |
| Kcnma1 |
G |
T |
14: 24,053,897 (GRCm39) |
F99L |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,705,731 (GRCm39) |
Y395C |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,283 (GRCm39) |
N133K |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,884 (GRCm39) |
Y342C |
probably damaging |
Het |
| Lrrc18 |
A |
T |
14: 32,731,021 (GRCm39) |
M187L |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,187,756 (GRCm39) |
S311P |
unknown |
Het |
| Lypd3 |
T |
A |
7: 24,338,349 (GRCm39) |
S133R |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,859,699 (GRCm39) |
S1233T |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,857,463 (GRCm39) |
E1062D |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,221,098 (GRCm39) |
K942E |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,469,941 (GRCm39) |
D404G |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,321 (GRCm39) |
D113G |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,165 (GRCm39) |
F107L |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,272,929 (GRCm39) |
I83F |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,497 (GRCm39) |
F299S |
probably benign |
Het |
| Otub1 |
C |
T |
19: 7,176,813 (GRCm39) |
G181D |
probably damaging |
Het |
| Palb2 |
T |
C |
7: 121,726,304 (GRCm39) |
H522R |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,459 (GRCm39) |
D570V |
probably damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,171,070 (GRCm39) |
N271S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,498,291 (GRCm39) |
Q50R |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,087,895 (GRCm39) |
V499L |
possibly damaging |
Het |
| Sema5a |
C |
T |
15: 32,673,546 (GRCm39) |
Q795* |
probably null |
Het |
| Sf3a2 |
A |
G |
10: 80,637,309 (GRCm39) |
N49S |
probably damaging |
Het |
| Sft2d1 |
T |
G |
17: 8,545,812 (GRCm39) |
S156A |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a33 |
T |
A |
4: 149,836,913 (GRCm39) |
T144S |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,818,818 (GRCm39) |
K6M |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Tfap2c |
G |
A |
2: 172,399,213 (GRCm39) |
D487N |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,890,026 (GRCm39) |
F857S |
probably damaging |
Het |
| Tnfrsf4 |
A |
G |
4: 156,100,884 (GRCm39) |
I272V |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,220,924 (GRCm39) |
R45C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,756,320 (GRCm39) |
S1167P |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,855,537 (GRCm39) |
T161S |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,380,579 (GRCm39) |
V262A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ufsp1 |
C |
A |
5: 137,293,545 (GRCm39) |
P165Q |
possibly damaging |
Het |
| Usp19 |
T |
G |
9: 108,371,894 (GRCm39) |
L390R |
probably damaging |
Het |
| Vegfc |
G |
T |
8: 54,634,338 (GRCm39) |
C339F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,549 (GRCm39) |
N428K |
possibly damaging |
Het |
| Wdr11 |
T |
G |
7: 129,210,647 (GRCm39) |
V517G |
probably damaging |
Het |
| Xkr4 |
T |
A |
1: 3,286,519 (GRCm39) |
D557V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,379,119 (GRCm39) |
C5327F |
unknown |
Het |
| Zfp770 |
A |
T |
2: 114,026,949 (GRCm39) |
N373K |
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 |
|
|
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 |
|
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'- CCTTTTCTCAGATCAGGGACTC -3'
(R):5'- GCCATGAGCAGTTCTGGAAC -3'
Sequencing Primer
(F):5'- TCAGGGACTCTGAGCCCAG -3'
(R):5'- CACATTAGCCAGACTCAGAAAGGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation