Incidental Mutation 'R1529:Nisch'
ID 166489
Institutional Source Beutler Lab
Gene Symbol Nisch
Ensembl Gene ENSMUSG00000021910
Gene Name nischarin
Synonyms 1200007D05Rik, edsn, 3202002H23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1529 (G1)
Quality Score 170
Status Not validated
Chromosome 14
Chromosomal Location 30892885-30928783 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 30902895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000169906] [ENSMUST00000168206] [ENSMUST00000172142]
AlphaFold Q80TM9
Predicted Effect unknown
Transcript: ENSMUST00000022469
AA Change: V515I
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V515I

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: 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 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 probably benign
Transcript: ENSMUST00000165981
SMART Domains Protein: ENSMUSP00000130210
Gene: ENSMUSG00000021910

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: ENSMUST00000169906
SMART Domains Protein: ENSMUSP00000129268
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
coiled coil region 113 138 N/A INTRINSIC
low complexity region 150 183 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000168206
AA Change: V270I
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V270I

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 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 probably benign
Transcript: ENSMUST00000170436
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 probably benign
Transcript: ENSMUST00000172142
SMART Domains Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910

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: ENSMUST00000168451
SMART Domains Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Pfam:PX 4 53 5.5e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,768,533 (GRCm39) I21T probably benign Het
Adam11 T C 11: 102,665,939 (GRCm39) probably null Het
Amd1 A T 10: 40,166,501 (GRCm39) M194K probably benign Het
Ap1b1 T G 11: 4,989,547 (GRCm39) F793C probably damaging Het
Arfgef3 G A 10: 18,488,970 (GRCm39) R1292* probably null Het
Arhgef5 C A 6: 43,256,449 (GRCm39) H1186N probably damaging Het
Atad1 A G 19: 32,684,321 (GRCm39) F26L probably benign Het
Atg2b C T 12: 105,627,392 (GRCm39) V532I probably benign Het
Atp2b4 A G 1: 133,645,726 (GRCm39) F943L probably damaging Het
Atp7b G A 8: 22,518,740 (GRCm39) L21F possibly damaging Het
Ccdc9b T A 2: 118,592,241 (GRCm39) probably null Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cimip3 G A 17: 47,724,815 (GRCm39) S102L probably benign Het
Ckmt2 A T 13: 92,009,320 (GRCm39) D202E probably benign Het
Crim1 A C 17: 78,675,383 (GRCm39) K864T probably benign Het
Ctnnd2 A G 15: 30,887,267 (GRCm39) R765G possibly damaging Het
Ddx10 T A 9: 53,028,499 (GRCm39) R802* probably null Het
Dnah7b T A 1: 46,216,441 (GRCm39) F1152L probably damaging Het
Dsg1c T C 18: 20,415,080 (GRCm39) L659P probably damaging Het
Dzank1 A G 2: 144,324,108 (GRCm39) F577L probably benign Het
Eci3 T C 13: 35,140,903 (GRCm39) D93G probably benign Het
Ecpas T C 4: 58,832,701 (GRCm39) probably null Het
Ep400 C A 5: 110,887,311 (GRCm39) V591L probably benign Het
Fgd3 T C 13: 49,420,170 (GRCm39) N569S probably benign Het
Ghsr T A 3: 27,426,631 (GRCm39) V229E probably damaging Het
Gna15 T A 10: 81,345,176 (GRCm39) I230F probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Grid1 T C 14: 35,031,250 (GRCm39) V281A probably benign Het
Hebp2 G A 10: 18,421,509 (GRCm39) A12V possibly damaging Het
Hfm1 T C 5: 107,000,989 (GRCm39) D1254G probably benign Het
Hif3a A C 7: 16,776,564 (GRCm39) S459A probably benign Het
Hnrnpl T A 7: 28,513,348 (GRCm39) N149K possibly damaging Het
Hoxc10 A T 15: 102,875,635 (GRCm39) S115C probably damaging Het
Hycc2 A T 1: 58,578,766 (GRCm39) D261E probably benign Het
Ifnab T C 4: 88,609,292 (GRCm39) D58G possibly damaging Het
Itfg1 T C 8: 86,537,243 (GRCm39) T195A probably benign Het
Itpr3 T A 17: 27,324,459 (GRCm39) probably null Het
Iws1 A G 18: 32,213,334 (GRCm39) D254G probably benign Het
Kl C A 5: 150,912,406 (GRCm39) D718E probably benign Het
Lrit2 A G 14: 36,790,784 (GRCm39) I154M probably benign Het
Lrp2 T C 2: 69,353,526 (GRCm39) D578G probably damaging Het
Lss T G 10: 76,372,123 (GRCm39) Y159* probably null Het
Mab21l1 C A 3: 55,691,254 (GRCm39) Y280* probably null Het
Maf A T 8: 116,419,909 (GRCm39) S378T probably benign Het
Mast2 C T 4: 116,287,716 (GRCm39) V59I probably benign Het
Nova2 A T 7: 18,691,479 (GRCm39) N139Y probably damaging Het
Nup210 C A 6: 91,013,358 (GRCm39) D434Y probably damaging Het
Nvl C T 1: 180,936,724 (GRCm39) probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or51g2 A G 7: 102,623,086 (GRCm39) Y38H probably damaging Het
Or56b1 A G 7: 104,285,696 (GRCm39) T272A probably benign Het
Or8k18 A T 2: 86,085,585 (GRCm39) Y151N probably damaging Het
Or8k3b A G 2: 86,520,677 (GRCm39) V214A possibly damaging Het
Pbx3 T C 2: 34,094,871 (GRCm39) Y255C probably damaging Het
Pcyt1a G A 16: 32,270,611 (GRCm39) E27K possibly damaging Het
Pex6 A T 17: 47,024,990 (GRCm39) T348S probably benign Het
Phf21b A G 15: 84,681,597 (GRCm39) I251T probably damaging Het
Pkd2l2 T C 18: 34,563,755 (GRCm39) I490T probably damaging Het
Pla2g12a T A 3: 129,672,534 (GRCm39) L56Q probably damaging Het
Plk4 A G 3: 40,760,971 (GRCm39) T434A probably benign Het
Ptpn13 A G 5: 103,711,998 (GRCm39) N1632S probably benign Het
Rfpl4 C T 7: 5,113,711 (GRCm39) V151M probably damaging Het
Rpain G C 11: 70,865,741 (GRCm39) E169Q probably damaging Het
Samd8 T A 14: 21,825,227 (GRCm39) V124D possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc12a1 C T 2: 125,032,215 (GRCm39) T622I probably damaging Het
Slc17a3 T A 13: 24,029,428 (GRCm39) V67D probably damaging Het
Slc41a3 G T 6: 90,621,198 (GRCm39) V387L probably damaging Het
Slitrk1 T A 14: 109,150,709 (GRCm39) M1L probably benign Het
Stat4 T C 1: 52,050,952 (GRCm39) W4R probably damaging Het
Tas2r126 A G 6: 42,411,502 (GRCm39) T12A probably benign Het
Tbc1d24 A G 17: 24,404,953 (GRCm39) C64R probably damaging Het
Tcaf2 T C 6: 42,606,440 (GRCm39) S505G probably benign Het
Tiam2 T C 17: 3,566,978 (GRCm39) V1506A probably benign Het
Tmem9b A C 7: 109,336,156 (GRCm39) S163A probably benign Het
Tmtc2 G A 10: 105,139,519 (GRCm39) S669L probably damaging Het
Tnpo3 A T 6: 29,560,220 (GRCm39) I641K possibly damaging Het
Ttn C T 2: 76,565,711 (GRCm39) A28214T probably damaging Het
Utp11 G A 4: 124,577,032 (GRCm39) A113V probably benign Het
Utp20 G A 10: 88,588,868 (GRCm39) R2434C probably damaging Het
Vmn1r60 A T 7: 5,547,902 (GRCm39) I66N probably benign Het
Zeb2 T C 2: 44,887,206 (GRCm39) E572G 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
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
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'- AAGAGAAAGTACTGCCTGCTCCCG -3'
(R):5'- TCCAAGGGCAAAGCATCTTACTGAG -3'

Sequencing Primer
(F):5'- CTTGGTCTATGACCCAACTAGAG -3'
(R):5'- CTGAGGAGTTACTCAATTACTGCC -3'
Posted On 2014-04-13