Incidental Mutation 'R8672:Nisch'
| ID |
661225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nisch
|
| Ensembl Gene |
ENSMUSG00000021910 |
| Gene Name |
nischarin |
| Synonyms |
1200007D05Rik, edsn, 3202002H23Rik |
| MMRRC Submission |
068527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
30892885-30928783 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30895093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1068
(C1068R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022469]
[ENSMUST00000036618]
[ENSMUST00000167449]
[ENSMUST00000168206]
[ENSMUST00000169628]
|
| AlphaFold |
Q80TM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022469
AA Change: C1313R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: C1313R
| 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: ENSMUST00000036618
|
| SMART Domains |
Protein: ENSMUSP00000046199
Gene: ENSMUSG00000042286
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
EGF
|
112 |
149 |
6.65e-2 |
SMART |
|
EGF
|
160 |
194 |
2.28e0 |
SMART |
|
EGF
|
199 |
232 |
1.4e0 |
SMART |
|
EGF
|
236 |
272 |
4.97e-1 |
SMART |
|
EGF
|
276 |
319 |
1.95e1 |
SMART |
|
EGF_like
|
321 |
357 |
5.03e1 |
SMART |
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
Blast:FAS1
|
414 |
501 |
2e-52 |
BLAST |
|
FAS1
|
543 |
645 |
1.35e-24 |
SMART |
|
EGF_like
|
780 |
817 |
5.45e1 |
SMART |
|
EGF
|
822 |
861 |
1.08e-1 |
SMART |
|
EGF
|
865 |
904 |
3.15e-3 |
SMART |
|
EGF
|
908 |
947 |
1.3e1 |
SMART |
|
EGF
|
951 |
989 |
1.47e1 |
SMART |
|
FAS1
|
1023 |
1122 |
1.3e-17 |
SMART |
|
FAS1
|
1165 |
1257 |
2.94e0 |
SMART |
|
EGF
|
1332 |
1369 |
1.4e0 |
SMART |
|
EGF
|
1379 |
1413 |
1.88e-1 |
SMART |
|
EGF
|
1420 |
1455 |
6.02e0 |
SMART |
|
EGF
|
1459 |
1497 |
3.82e-2 |
SMART |
|
EGF
|
1501 |
1540 |
2.05e-2 |
SMART |
|
EGF
|
1544 |
1583 |
2.25e1 |
SMART |
|
FAS1
|
1616 |
1712 |
1.61e-22 |
SMART |
|
FAS1
|
1763 |
1868 |
2.12e-17 |
SMART |
|
EGF
|
1970 |
2007 |
1.26e-2 |
SMART |
|
EGF
|
2017 |
2051 |
1.61e0 |
SMART |
|
EGF
|
2059 |
2090 |
2.45e0 |
SMART |
|
EGF
|
2094 |
2131 |
3.46e0 |
SMART |
|
EGF
|
2135 |
2174 |
3.82e-2 |
SMART |
|
LINK
|
2206 |
2301 |
8.55e-49 |
SMART |
|
FAS1
|
2367 |
2462 |
2.06e-6 |
SMART |
|
transmembrane domain
|
2476 |
2498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167449
AA Change: C67R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168206
AA Change: C1068R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: C1068R
| 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: C81R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: C81R
| 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: 99.3%
- 20x: 97.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Aadat |
A |
T |
8: 60,959,179 (GRCm39) |
|
probably benign |
Het |
| Amigo3 |
A |
G |
9: 107,931,375 (GRCm39) |
H266R |
possibly damaging |
Het |
| Amy2a1 |
A |
T |
3: 113,323,146 (GRCm39) |
M214K |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,874,066 (GRCm39) |
D685V |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,460 (GRCm39) |
M135K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,564 (GRCm39) |
T483A |
probably benign |
Het |
| Card9 |
T |
C |
2: 26,247,950 (GRCm39) |
T134A |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,764,949 (GRCm39) |
T216I |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,079,005 (GRCm39) |
V360A |
unknown |
Het |
| Crcp |
A |
G |
5: 130,071,077 (GRCm39) |
R59G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,976,598 (GRCm39) |
E2873D |
probably benign |
Het |
| Cyp8b1 |
T |
A |
9: 121,743,986 (GRCm39) |
M449L |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,246,133 (GRCm39) |
D40G |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,823 (GRCm39) |
L463Q |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,278,524 (GRCm39) |
I454V |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,491,675 (GRCm39) |
I41F |
probably damaging |
Het |
| Gkap1 |
G |
A |
13: 58,391,662 (GRCm39) |
T231I |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,069,632 (GRCm39) |
L1705P |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,850,786 (GRCm39) |
F467I |
probably damaging |
Het |
| Ifih1 |
T |
C |
2: 62,435,993 (GRCm39) |
E699G |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,873,370 (GRCm39) |
L443Q |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,276,016 (GRCm39) |
C764S |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,551,230 (GRCm39) |
I519N |
probably damaging |
Het |
| Krtap4-1 |
C |
T |
11: 99,518,890 (GRCm39) |
C40Y |
unknown |
Het |
| Mdn1 |
A |
G |
4: 32,768,793 (GRCm39) |
D5384G |
probably damaging |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mucl1 |
A |
G |
15: 103,784,063 (GRCm39) |
S48P |
possibly damaging |
Het |
| Musk |
T |
G |
4: 58,286,051 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
T |
C |
10: 127,512,988 (GRCm39) |
S8P |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,851,579 (GRCm39) |
N404D |
probably damaging |
Het |
| Nwd1 |
C |
G |
8: 73,394,007 (GRCm39) |
H423Q |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,921 (GRCm39) |
V52M |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,596 (GRCm39) |
N63K |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,976 (GRCm39) |
M15L |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,124,529 (GRCm39) |
N547S |
probably benign |
Het |
| Pdha2 |
C |
A |
3: 140,917,124 (GRCm39) |
R128L |
probably damaging |
Het |
| Pebp1 |
A |
G |
5: 117,421,336 (GRCm39) |
Y181H |
probably benign |
Het |
| Peg3 |
T |
G |
7: 6,711,523 (GRCm39) |
D1233A |
possibly damaging |
Het |
| Pepd |
C |
A |
7: 34,642,107 (GRCm39) |
T146N |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,393,841 (GRCm39) |
D877E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,270,846 (GRCm39) |
M647R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,419,007 (GRCm39) |
S702P |
possibly damaging |
Het |
| Shb |
A |
T |
4: 45,489,161 (GRCm39) |
D238E |
probably damaging |
Het |
| Slc36a1 |
T |
A |
11: 55,123,334 (GRCm39) |
V433D |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,127,726 (GRCm39) |
N1761K |
probably benign |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Tcerg1 |
A |
T |
18: 42,686,559 (GRCm39) |
K705N |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,943,719 (GRCm39) |
N112K |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,222,919 (GRCm39) |
I398T |
possibly damaging |
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 |
|
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'- ATCTCAGCACTTCCCGAAGC -3'
(R):5'- CCGAGCTAAGCAAGATGAGACTC -3'
Sequencing Primer
(F):5'- CTTGTAAGTGGAGATATATGTGTCAC -3'
(R):5'- TCATCCCCACACCCAGTGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation