Incidental Mutation 'R5009:Nisch'
ID 390388
Institutional Source Beutler Lab
Gene Symbol Nisch
Ensembl Gene ENSMUSG00000021910
Gene Name nischarin
Synonyms 1200007D05Rik, edsn, 3202002H23Rik
MMRRC Submission 042600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5009 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30892885-30928783 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 30909186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000172142] [ENSMUST00000168206]
AlphaFold Q80TM9
Predicted Effect unknown
Transcript: ENSMUST00000022469
AA Change: V337M
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V337M

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 noncoding transcript
Transcript: ENSMUST00000163846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164956
Predicted Effect probably benign
Transcript: ENSMUST00000164989
SMART Domains Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
PX 15 119 2.17e-26 SMART
Pfam:LRR_4 289 332 3.2e-8 PFAM
Pfam:LRR_1 290 311 2.9e-3 PFAM
Pfam:LRR_1 313 332 4.2e-2 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000165981
AA Change: V337M
SMART Domains Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: V337M

DomainStartEndE-ValueType
PX 15 119 2.17e-26 SMART
Pfam:LRR_7 289 305 7.4e-2 PFAM
Pfam:LRR_6 289 309 3.8e-2 PFAM
Pfam:LRR_4 289 333 5.9e-8 PFAM
Pfam:LRR_8 289 346 6.8e-10 PFAM
Pfam:LRR_1 290 311 4.4e-3 PFAM
Pfam:LRR_8 312 369 7.3e-9 PFAM
Pfam:LRR_1 313 333 1.8e-2 PFAM
Pfam:LRR_4 329 377 2.3e-8 PFAM
Pfam:LRR_6 333 354 2e-3 PFAM
Pfam:LRR_7 334 350 1.9e-1 PFAM
Pfam:LRR_1 335 354 1.2e-2 PFAM
Blast:LRR 378 403 1e-6 BLAST
Blast:LRR 403 429 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167979
Predicted Effect unknown
Transcript: ENSMUST00000172142
AA Change: V337M
SMART Domains Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: V337M

DomainStartEndE-ValueType
PX 15 119 2.17e-26 SMART
Pfam:LRR_7 289 305 8.2e-2 PFAM
Pfam:LRR_6 289 309 4.2e-2 PFAM
Pfam:LRR_4 289 333 6.6e-8 PFAM
Pfam:LRR_8 289 346 7.6e-10 PFAM
Pfam:LRR_1 290 311 4.9e-3 PFAM
Pfam:LRR_8 312 369 7.7e-9 PFAM
Pfam:LRR_1 313 333 2e-2 PFAM
Pfam:LRR_4 329 377 2.7e-8 PFAM
Pfam:LRR_6 333 354 2.2e-3 PFAM
Pfam:LRR_7 334 350 2.1e-1 PFAM
Pfam:LRR_1 335 354 1.3e-2 PFAM
Blast:LRR 378 403 1e-6 BLAST
Blast:LRR 403 429 1e-7 BLAST
low complexity region 489 501 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000168206
AA Change: V92M
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V92M

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: ENSMUST00000170343
SMART Domains Protein: ENSMUSP00000130246
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Pfam:LRR_8 74 131 2.3e-8 PFAM
Blast:LRR 140 165 7e-7 BLAST
Blast:LRR 165 191 6e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172370
Predicted Effect probably benign
Transcript: ENSMUST00000170436
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
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 benign
Transcript: ENSMUST00000169149
SMART Domains Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Blast:PX 2 27 1e-10 BLAST
PDB:3P0C|B 2 33 7e-12 PDB
Meta Mutation Damage Score 0.1454 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (91/91)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,487,426 (GRCm39) probably benign Het
Aim2 T C 1: 173,282,932 (GRCm39) Y5H probably damaging Het
Atosa G A 9: 74,916,171 (GRCm39) E257K probably damaging Het
Atp7b A G 8: 22,517,714 (GRCm39) S375P possibly damaging Het
BC106179 C A 16: 23,043,192 (GRCm39) probably benign Het
Brinp3 T A 1: 146,776,787 (GRCm39) N411K probably benign Het
Cacna1d A G 14: 29,801,289 (GRCm39) V1386A probably damaging Het
Cuzd1 T A 7: 130,913,252 (GRCm39) Y455F probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dot1l G T 10: 80,607,030 (GRCm39) R108L probably benign Het
Dysf T C 6: 84,128,968 (GRCm39) S1413P probably damaging Het
Eea1 C A 10: 95,846,883 (GRCm39) R388S probably benign Het
Elavl1 C T 8: 4,351,723 (GRCm39) R131Q probably benign Het
Erich6b A G 14: 75,902,596 (GRCm39) T138A possibly damaging Het
Esr1 C T 10: 4,662,394 (GRCm39) T4I probably damaging Het
Ets1 T C 9: 32,644,295 (GRCm39) S152P possibly damaging Het
Fcsk C T 8: 111,614,462 (GRCm39) C609Y probably damaging Het
Flrt2 T C 12: 95,746,547 (GRCm39) V295A probably damaging Het
Gm13196 A G 2: 4,705,149 (GRCm39) noncoding transcript Het
Gm5965 T A 16: 88,575,312 (GRCm39) Y162N probably benign Het
Gm7853 A T 14: 35,811,466 (GRCm39) noncoding transcript Het
Gm8126 C T 14: 43,119,065 (GRCm39) A178V probably benign Het
Gpihbp1 A T 15: 75,469,570 (GRCm39) probably benign Het
Greb1 T C 12: 16,774,858 (GRCm39) T180A possibly damaging Het
Gsdme C T 6: 50,222,992 (GRCm39) V108M possibly damaging Het
Gtpbp4 T C 13: 9,039,102 (GRCm39) Y157C probably benign Het
Gvin3 A G 7: 106,200,767 (GRCm39) noncoding transcript Het
Hivep1 T A 13: 42,312,229 (GRCm39) F1490I probably benign Het
Il17ra T C 6: 120,459,168 (GRCm39) V773A probably benign Het
Kctd8 T A 5: 69,268,076 (GRCm39) T345S probably benign Het
Kdm3b T C 18: 34,957,763 (GRCm39) S1243P probably benign Het
Klhdc1 T C 12: 69,298,712 (GRCm39) V99A possibly damaging Het
Lars1 T G 18: 42,354,612 (GRCm39) E778D probably benign Het
Map7 C T 10: 20,137,664 (GRCm39) R279* probably null Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Mtbp A G 15: 55,466,583 (GRCm39) D532G probably benign Het
Mylk G A 16: 34,719,877 (GRCm39) V597I probably benign Het
Necab1 A G 4: 14,947,503 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,013,531 (GRCm39) D573G probably benign Het
Noct C A 3: 51,155,482 (GRCm39) N83K probably damaging Het
Or10am5 A G 7: 6,517,546 (GRCm39) L294P probably damaging Het
Or1b1 C T 2: 36,995,467 (GRCm39) R65H possibly damaging Het
Or2a12 C A 6: 42,904,367 (GRCm39) D67E probably damaging Het
Or2ad1 T C 13: 21,326,435 (GRCm39) N264S probably benign Het
Or52n4b A G 7: 108,144,055 (GRCm39) I106V probably benign Het
Or6b13 C T 7: 139,781,751 (GRCm39) A311T probably benign Het
Or6c201 T C 10: 128,969,484 (GRCm39) H51R probably benign Het
Osgepl1 T A 1: 53,357,339 (GRCm39) V167D probably damaging Het
Pabpc6 T C 17: 9,887,489 (GRCm39) E354G probably damaging Het
Pgghg A C 7: 140,523,303 (GRCm39) D194A probably benign Het
Podnl1 A T 8: 84,852,887 (GRCm39) H19L probably benign Het
Pold1 G T 7: 44,183,326 (GRCm39) A977E probably benign Het
Poldip3 T C 15: 83,017,395 (GRCm39) T227A probably damaging Het
Prss43 A G 9: 110,656,489 (GRCm39) S59G possibly damaging Het
Ptpn14 T A 1: 189,582,731 (GRCm39) I526N probably benign Het
Ptprb T C 10: 116,184,032 (GRCm39) S1615P possibly damaging Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rab15 T C 12: 76,847,341 (GRCm39) E114G probably damaging Het
Rcvrn A G 11: 67,586,550 (GRCm39) E103G probably benign Het
Repin1 T A 6: 48,571,779 (GRCm39) probably benign Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rtkn2 T C 10: 67,877,239 (GRCm39) V433A probably benign Het
Runx1t1 T C 4: 13,865,231 (GRCm39) I314T possibly damaging Het
Serpinb9c A C 13: 33,338,414 (GRCm39) S190A probably benign Het
Shank2 C A 7: 143,623,916 (GRCm39) H300Q probably benign Het
Slc4a4 A G 5: 89,297,157 (GRCm39) probably null Het
Slc5a8 T C 10: 88,745,516 (GRCm39) S375P probably benign Het
Spns3 C A 11: 72,428,027 (GRCm39) W251L probably damaging Het
Spta1 A G 1: 174,067,789 (GRCm39) N2072S possibly damaging Het
Sptbn1 A G 11: 30,074,016 (GRCm39) V1351A probably benign Het
Sytl2 A T 7: 90,030,523 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tg A G 15: 66,568,435 (GRCm39) D1374G probably benign Het
Tlr1 A G 5: 65,083,567 (GRCm39) S337P probably damaging Het
Trp63 A T 16: 25,686,977 (GRCm39) D303V probably damaging Het
Ttn G A 2: 76,683,250 (GRCm39) probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Vmn2r77 T G 7: 86,451,015 (GRCm39) D300E possibly damaging Het
Zfp729a A T 13: 67,768,365 (GRCm39) N621K probably benign 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
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
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'- GCTTACCTGCTCAATCCGGTTG -3'
(R):5'- AGGCAGATCTTCAGTGCTCAC -3'

Sequencing Primer
(F):5'- TGTCTCGTAGGTCCACATTAACCAAG -3'
(R):5'- ATGCCAGCAGGTTATATCATGG -3'
Posted On 2016-06-06