Incidental Mutation 'R5930:Nisch'
ID 460208
Institutional Source Beutler Lab
Gene Symbol Nisch
Ensembl Gene ENSMUSG00000021910
Gene Name nischarin
Synonyms 1200007D05Rik, edsn, 3202002H23Rik
MMRRC Submission 044125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5930 (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 30895102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1065 (V1065I)
Ref Sequence ENSEMBL: ENSMUSP00000132842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000036618] [ENSMUST00000167449] [ENSMUST00000169628] [ENSMUST00000168206] [ENSMUST00000169906]
AlphaFold Q80TM9
Predicted Effect probably benign
Transcript: ENSMUST00000022469
AA Change: V1310I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: V1310I

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 noncoding transcript
Transcript: ENSMUST00000163846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164956
Predicted Effect probably benign
Transcript: ENSMUST00000167449
AA Change: V64I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000169628
AA Change: V78I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131465
Gene: ENSMUSG00000021910
AA Change: V78I

DomainStartEndE-ValueType
low complexity region 231 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168206
AA Change: V1065I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: V1065I

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 noncoding transcript
Transcript: ENSMUST00000168451
SMART Domains Protein: ENSMUSP00000132912
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Pfam:PX 4 53 5.5e-8 PFAM
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 probably benign
Transcript: ENSMUST00000170436
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,545,570 (GRCm39) V5572I probably benign Het
Agap1 C T 1: 89,770,818 (GRCm39) T656I probably damaging Het
Als2cl C T 9: 110,716,432 (GRCm39) R247W probably damaging Het
Ankfy1 A T 11: 72,603,071 (GRCm39) R33S probably benign Het
Ano5 T C 7: 51,235,079 (GRCm39) F671L probably damaging Het
Arhgap26 A G 18: 39,283,145 (GRCm39) M361V probably damaging Het
Bckdk A G 7: 127,505,145 (GRCm39) E175G probably damaging Het
Bptf G T 11: 106,964,022 (GRCm39) T1724K probably damaging Het
Btn2a2 T A 13: 23,670,398 (GRCm39) I112F probably damaging Het
Cln8 T A 8: 14,946,621 (GRCm39) W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 (GRCm39) E300G probably benign Het
Cnksr3 T C 10: 7,092,993 (GRCm39) I173V probably benign Het
Cntn2 T A 1: 132,451,170 (GRCm39) D484V probably damaging Het
Cyp4a14 C A 4: 115,348,607 (GRCm39) G319V probably damaging Het
Cyp4f37 G A 17: 32,848,957 (GRCm39) R275Q possibly damaging Het
Def8 C T 8: 124,186,809 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,280 (GRCm39) V356A probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Dock6 A G 9: 21,735,712 (GRCm39) V1012A probably benign Het
Dus3l T A 17: 57,076,579 (GRCm39) N586K probably damaging Het
Dyrk2 T A 10: 118,696,173 (GRCm39) I362F probably damaging Het
Eeig2 A T 3: 108,887,468 (GRCm39) S265R probably benign Het
Erc2 T A 14: 27,498,815 (GRCm39) D230E probably damaging Het
Fat1 A G 8: 45,497,073 (GRCm39) H4186R probably benign Het
Fbxo44 A G 4: 148,241,052 (GRCm39) F179S probably damaging Het
Fech A G 18: 64,611,720 (GRCm39) probably null Het
Fer1l5 T A 1: 36,424,254 (GRCm39) C289* probably null Het
Fhl5 T A 4: 25,214,756 (GRCm39) D7V probably benign Het
Flvcr1 G T 1: 190,741,748 (GRCm39) T514K probably damaging Het
Fmo1 A T 1: 162,667,185 (GRCm39) probably null Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gli3 A G 13: 15,723,210 (GRCm39) Y117C probably damaging Het
Gnao1 A G 8: 94,622,873 (GRCm39) D59G probably benign Het
Gria2 T C 3: 80,614,556 (GRCm39) I495V possibly damaging Het
Hnf1b C A 11: 83,754,811 (GRCm39) H161Q probably benign Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Itpr3 A T 17: 27,329,895 (GRCm39) Q1563L possibly damaging Het
Kctd16 A G 18: 40,663,882 (GRCm39) N337S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Krtap4-9 T A 11: 99,676,462 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Mchr1 T C 15: 81,122,044 (GRCm39) F265L probably damaging Het
Megf8 T A 7: 25,025,866 (GRCm39) Y83* probably null Het
Mettl18 A G 1: 163,824,746 (GRCm39) M356V probably null Het
Mrm1 G A 11: 84,710,018 (GRCm39) R61W probably damaging Het
Muc4 A T 16: 32,570,523 (GRCm39) T528S probably benign Het
Myef2 A T 2: 124,937,651 (GRCm39) L530* probably null Het
Nhlrc4 T C 17: 26,162,693 (GRCm39) E18G probably benign Het
Nlgn2 C T 11: 69,724,975 (GRCm39) R97H probably damaging Het
Nos2 T C 11: 78,828,741 (GRCm39) L321S probably damaging Het
Oaz3 T C 3: 94,343,717 (GRCm39) M49V possibly damaging Het
Olfm5 A G 7: 103,803,362 (GRCm39) V367A probably damaging Het
Omd C T 13: 49,743,112 (GRCm39) P54L possibly damaging Het
Or10ak12 C T 4: 118,666,575 (GRCm39) R162H probably benign Het
Or11g26 C A 14: 50,753,249 (GRCm39) A196D probably benign Het
Or2g7 C A 17: 38,378,641 (GRCm39) A193D probably benign Het
Or51f23 A T 7: 102,453,481 (GRCm39) R265S probably damaging Het
Or7d10 A G 9: 19,832,206 (GRCm39) K234E probably damaging Het
Pard3b T A 1: 61,807,289 (GRCm39) probably benign Het
Pcdhb18 A C 18: 37,624,988 (GRCm39) I773L possibly damaging Het
Pde11a T C 2: 75,970,175 (GRCm39) probably null Het
Pfkfb4 A C 9: 108,859,462 (GRCm39) probably benign Het
Phb2 T G 6: 124,692,612 (GRCm39) I260S probably damaging Het
Pkd1l1 G A 11: 8,908,969 (GRCm39) T345I unknown Het
Pla2g6 T C 15: 79,187,728 (GRCm39) probably benign Het
Pou4f2 G A 8: 79,163,020 (GRCm39) S5F unknown Het
Ppp1r9a A T 6: 5,157,002 (GRCm39) probably null Het
Pramel5 A G 4: 143,999,553 (GRCm39) I178T probably benign Het
Prom2 C T 2: 127,372,053 (GRCm39) W745* probably null Het
Pros1 T A 16: 62,748,424 (GRCm39) N632K probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rbm25 T A 12: 83,724,640 (GRCm39) H796Q possibly damaging Het
Rnf151 A T 17: 24,937,004 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,598,882 (GRCm39) L97I probably damaging Het
Scart1 C T 7: 139,810,359 (GRCm39) P984S probably benign Het
Semp2l2a T A 8: 13,887,263 (GRCm39) D276V probably benign Het
Sergef T A 7: 46,092,888 (GRCm39) T374S probably benign Het
Sh3rf3 G T 10: 58,966,808 (GRCm39) G717C probably damaging Het
Slc29a4 C T 5: 142,707,157 (GRCm39) T500I possibly damaging Het
Smc1b T A 15: 84,970,322 (GRCm39) D977V probably damaging Het
Spata31d1d C T 13: 59,874,829 (GRCm39) C902Y probably benign Het
St14 A T 9: 31,015,056 (GRCm39) V314D probably damaging Het
Stat3 A T 11: 100,784,496 (GRCm39) I602N possibly damaging Het
Stx4a T A 7: 127,445,661 (GRCm39) I189N probably damaging Het
Tacc1 A G 8: 25,672,215 (GRCm39) S338P probably benign Het
Tcirg1 T A 19: 3,952,424 (GRCm39) T315S possibly damaging Het
Tenm4 A T 7: 96,503,926 (GRCm39) N1295I probably damaging Het
Tm7sf3 T C 6: 146,505,409 (GRCm39) K516E possibly damaging Het
Tmem198b T C 10: 128,637,323 (GRCm39) E272G possibly damaging Het
Tnip3 A G 6: 65,582,937 (GRCm39) Q237R probably damaging Het
Trim15 C T 17: 37,173,252 (GRCm39) probably null Het
Trim30a T A 7: 104,070,657 (GRCm39) N252I possibly damaging Het
Ttc39a A G 4: 109,288,075 (GRCm39) E227G probably benign Het
Ttll13 A G 7: 79,902,914 (GRCm39) E194G probably damaging Het
Upf1 G A 8: 70,796,912 (GRCm39) T107I probably benign Het
Vac14 A G 8: 111,436,981 (GRCm39) I565V probably damaging Het
Zcchc14 A T 8: 122,338,097 (GRCm39) 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
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
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'- TGATAGTGTACCTACATGTGCG -3'
(R):5'- TGCCCTTTGGATCTCAGTAGG -3'

Sequencing Primer
(F):5'- ACCTACATGTGCGAGGTGG -3'
(R):5'- TGGATCTCAGTAGGAACCTCATC -3'
Posted On 2017-02-28