Incidental Mutation 'R2107:Nisch'
ID 232197
Institutional Source Beutler Lab
Gene Symbol Nisch
Ensembl Gene ENSMUSG00000021910
Gene Name nischarin
Synonyms 1200007D05Rik, edsn, 3202002H23Rik
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30892885-30928783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30894097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 172 (V172I)
Ref Sequence ENSEMBL: ENSMUSP00000131465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000036618] [ENSMUST00000167449] [ENSMUST00000168206] [ENSMUST00000169628]
AlphaFold Q80TM9
Predicted Effect probably damaging
Transcript: ENSMUST00000022469
AA Change: V1404I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1404I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000159532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163552
SMART Domains Protein: ENSMUSP00000131689
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
low complexity region 96 127 N/A INTRINSIC
low complexity region 139 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167449
Predicted Effect probably damaging
Transcript: ENSMUST00000168206
AA Change: V1159I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V1159I

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000168451
SMART Domains Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Pfam:PX 4 53 5.5e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169628
AA Change: V172I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: V172I

DomainStartEndE-ValueType
low complexity region 231 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170253
SMART Domains Protein: ENSMUSP00000129547
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Other mutations in Nisch
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTCAGGCAATGGATAGTGGATG -3'
(R):5'- AGGTTCCATCCCAGCAATCC -3'

Sequencing Primer
(F):5'- TCAGGAGCAGCGTCTTAGG -3'
(R):5'- AGCAATCCCCAGGCAGC -3'
Posted On 2014-09-18