Incidental Mutation 'R4752:Nisch'
ID 357695
Institutional Source Beutler Lab
Gene Symbol Nisch
Ensembl Gene ENSMUSG00000021910
Gene Name nischarin
Synonyms 1200007D05Rik, edsn, 3202002H23Rik
MMRRC Submission 042032-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4752 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30892885-30928783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30914545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 42 (F42L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000168206] [ENSMUST00000172142]
AlphaFold Q80TM9
Predicted Effect unknown
Transcript: ENSMUST00000022469
AA Change: F135L
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: F135L

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: ENSMUST00000164956
Predicted Effect unknown
Transcript: ENSMUST00000164989
AA Change: F135L
SMART Domains Protein: ENSMUSP00000126982
Gene: ENSMUSG00000021910
AA Change: F135L

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: F135L
SMART Domains Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910
AA Change: F135L

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 probably benign
Transcript: ENSMUST00000168206
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910

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: ENSMUST00000169149
AA Change: F42L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910
AA Change: F42L

DomainStartEndE-ValueType
Blast:PX 2 27 1e-10 BLAST
PDB:3P0C|B 2 33 7e-12 PDB
Predicted Effect unknown
Transcript: ENSMUST00000172142
AA Change: F135L
SMART Domains Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: F135L

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 noncoding transcript
Transcript: ENSMUST00000172370
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
Meta Mutation Damage Score 0.1526 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (68/69)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,775,751 (GRCm39) Q1647K possibly damaging Het
Abcf3 A G 16: 20,369,326 (GRCm39) E236G probably damaging Het
Adamts17 A G 7: 66,654,218 (GRCm39) T483A probably damaging Het
Ankrd26 G T 6: 118,517,426 (GRCm39) P465Q probably null Het
Babam2 C T 5: 31,859,391 (GRCm39) probably benign Het
Bpifb1 T A 2: 154,058,200 (GRCm39) probably benign Het
Ccnb1ip1 T A 14: 51,031,122 (GRCm39) T64S possibly damaging Het
Cdhr3 A G 12: 33,136,102 (GRCm39) V46A probably damaging Het
Cep170 A T 1: 176,584,254 (GRCm39) D708E probably benign Het
Cpsf6 A T 10: 117,197,273 (GRCm39) probably benign Het
Cryzl2 C T 1: 157,286,219 (GRCm39) probably null Het
Dgka A T 10: 128,572,528 (GRCm39) F42I probably benign Het
Dip2a A T 10: 76,112,491 (GRCm39) V1059E probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dock4 T A 12: 40,496,364 (GRCm39) I3K probably benign Het
Dsc2 A T 18: 20,171,279 (GRCm39) N573K probably damaging Het
Eif2b4 G A 5: 31,348,575 (GRCm39) R213* probably null Het
Eif3b A G 5: 140,426,856 (GRCm39) D704G probably benign Het
Epn2 T C 11: 61,437,197 (GRCm39) E125G probably damaging Het
F830016B08Rik A G 18: 60,434,153 (GRCm39) N412S probably benign Het
Fbln2 A G 6: 91,233,225 (GRCm39) M570V probably benign Het
Gm16686 A T 4: 88,673,725 (GRCm39) probably benign Het
Hook2 C T 8: 85,729,349 (GRCm39) Q632* probably null Het
Ipcef1 A T 10: 6,929,573 (GRCm39) W56R probably damaging Het
Krt78 T C 15: 101,856,637 (GRCm39) I418M probably benign Het
Limk1 G A 5: 134,699,295 (GRCm39) T154I probably damaging Het
Lyl1 A T 8: 85,430,910 (GRCm39) T271S probably benign Het
Megf6 A G 4: 154,336,895 (GRCm39) I333V probably damaging Het
Meioc A G 11: 102,565,259 (GRCm39) T236A probably benign Het
Nbas A G 12: 13,532,538 (GRCm39) T1749A possibly damaging Het
Nfib T A 4: 82,215,016 (GRCm39) Q529L probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nomo1 T A 7: 45,706,626 (GRCm39) Y547N probably damaging Het
Or10g3 C T 14: 52,609,764 (GRCm39) V249I probably damaging Het
Or13a24 T C 7: 140,154,515 (GRCm39) S150P possibly damaging Het
Or5l14 A G 2: 87,792,693 (GRCm39) L181P probably damaging Het
Or8g51 T C 9: 38,609,266 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,709,563 (GRCm39) N117I probably damaging Het
Prkn T C 17: 12,223,010 (GRCm39) S387P probably benign Het
Prl3c1 A T 13: 27,387,508 (GRCm39) K164N probably benign Het
Prr23a3 T A 9: 98,747,700 (GRCm39) L218Q probably damaging Het
Prss43 A G 9: 110,656,836 (GRCm39) H114R possibly damaging Het
Ptcd3 A T 6: 71,878,296 (GRCm39) M142K probably damaging Het
Shisa7 G A 7: 4,837,249 (GRCm39) T89I possibly damaging Het
Slco1a1 C T 6: 141,892,340 (GRCm39) A9T possibly damaging Het
Srcap C T 7: 127,158,172 (GRCm39) probably benign Het
Tdg-ps G A 15: 82,400,572 (GRCm39) noncoding transcript Het
Tgm4 A G 9: 122,880,451 (GRCm39) D284G probably damaging Het
Tmc1 T A 19: 20,804,013 (GRCm39) I355F probably benign Het
Tmem121b A T 6: 120,469,995 (GRCm39) F241I possibly damaging Het
Tmem200c T A 17: 69,149,235 (GRCm39) V606E probably benign Het
Ttc39c A G 18: 12,861,782 (GRCm39) K370R probably benign Het
Vmn2r87 G A 10: 130,314,336 (GRCm39) Q417* probably null Het
Vps45 T C 3: 95,955,699 (GRCm39) Y97C possibly damaging Het
Zfp407 A G 18: 84,581,039 (GRCm39) S25P probably benign Het
Zfp566 A G 7: 29,777,306 (GRCm39) S292P probably 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
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
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'- TTCACCTGCAGGGCAAGTAG -3'
(R):5'- CATTCCGACATCCAGAGATCCG -3'

Sequencing Primer
(F):5'- TAGGTGGGTAGCCGGGAC -3'
(R):5'- CCAGAGATCCGAAAATACTTGGTTC -3'
Posted On 2015-11-11