Incidental Mutation 'R9240:Nisch'
ID 700708
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 # R9240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 30892885-30928783 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30906988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 236 (L236P)
Ref Sequence ENSEMBL: ENSMUSP00000132842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022469] [ENSMUST00000164989] [ENSMUST00000165981] [ENSMUST00000168206] [ENSMUST00000172142]
AlphaFold Q80TM9
Predicted Effect unknown
Transcript: ENSMUST00000022469
AA Change: L481P
SMART Domains Protein: ENSMUSP00000022469
Gene: ENSMUSG00000021910
AA Change: L481P

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: 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 unknown
Transcript: ENSMUST00000168206
AA Change: L236P
SMART Domains Protein: ENSMUSP00000132842
Gene: ENSMUSG00000021910
AA Change: L236P

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: ENSMUST00000169149
SMART Domains Protein: ENSMUSP00000131623
Gene: ENSMUSG00000021910

DomainStartEndE-ValueType
Blast:PX 2 27 1e-10 BLAST
PDB:3P0C|B 2 33 7e-12 PDB
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
Predicted Effect probably damaging
Transcript: ENSMUST00000172142
AA Change: L481P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132413
Gene: ENSMUSG00000021910
AA Change: L481P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,966,406 (GRCm39) I187V probably benign Het
Adam7 C A 14: 68,747,208 (GRCm39) V584L probably benign Het
Arsg T A 11: 109,463,093 (GRCm39) V451E probably benign Het
Btbd8 A G 5: 107,600,034 (GRCm39) D175G probably benign Het
Cacnb3 C T 15: 98,540,486 (GRCm39) P338L probably benign Het
Cars1 G T 7: 143,138,533 (GRCm39) P218Q probably benign Het
Ccdc180 T C 4: 45,917,566 (GRCm39) probably null Het
Cdh23 C T 10: 60,215,044 (GRCm39) D1431N probably benign Het
Cenpf A T 1: 189,389,167 (GRCm39) V1555D probably benign Het
Creb3l2 T C 6: 37,311,506 (GRCm39) N428D possibly damaging Het
Crebbp A T 16: 3,917,537 (GRCm39) probably null Het
Cstf1 C A 2: 172,217,669 (GRCm39) P94Q probably damaging Het
Dis3l A G 9: 64,217,447 (GRCm39) probably null Het
Dlc1 A T 8: 37,052,005 (GRCm39) D124E probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Eea1 T G 10: 95,776,824 (GRCm39) I5S probably benign Het
F7 A T 8: 13,085,173 (GRCm39) T400S probably damaging Het
Fbxo38 C A 18: 62,651,632 (GRCm39) E558* probably null Het
Fcgr2b C T 1: 170,797,042 (GRCm39) probably null Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Flt1 T C 5: 147,618,676 (GRCm39) N220D probably benign Het
Fzd9 A G 5: 135,278,812 (GRCm39) Y358H probably damaging Het
Gcc2 C T 10: 58,106,398 (GRCm39) Q545* probably null Het
Gkn3 T C 6: 87,365,789 (GRCm39) N10S probably benign Het
Gls C G 1: 52,207,553 (GRCm39) V604L probably benign Het
Gtf2i T A 5: 134,292,619 (GRCm39) Q375L probably benign Het
Hells A G 19: 38,935,289 (GRCm39) M320V possibly damaging Het
Ints3 T C 3: 90,310,410 (GRCm39) S497G possibly damaging Het
Iqub C A 6: 24,505,622 (GRCm39) L95F probably benign Het
Mat1a G A 14: 40,827,573 (GRCm39) C9Y probably benign Het
Mfsd4b5 A G 10: 39,851,099 (GRCm39) L103P probably damaging Het
Ms4a14 T C 19: 11,281,864 (GRCm39) I231M possibly damaging Het
Muc16 T C 9: 18,449,309 (GRCm39) T7580A unknown Het
Myb A T 10: 21,016,500 (GRCm39) L670Q probably damaging Het
Or5d38 A C 2: 87,955,231 (GRCm39) F33V probably benign Het
Plscr4 A T 9: 92,366,934 (GRCm39) M183L probably benign Het
Polr1a T A 6: 71,940,661 (GRCm39) C998* probably null Het
Prokr2 A T 2: 132,223,377 (GRCm39) V55E possibly damaging Het
Prr12 A T 7: 44,684,075 (GRCm39) V1655E probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Rspo1 C T 4: 124,885,132 (GRCm39) L3F probably benign Het
Rtn4rl1 C A 11: 75,156,082 (GRCm39) D171E probably damaging Het
Ryr1 A G 7: 28,743,313 (GRCm39) F3895L probably damaging Het
Scn8a G T 15: 100,915,068 (GRCm39) G1211* probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Smarcd3 T A 5: 24,801,831 (GRCm39) M103L probably benign Het
Smg1 A T 7: 117,739,031 (GRCm39) S3458T probably benign Het
Smg6 C T 11: 74,825,884 (GRCm39) R738W probably damaging Het
Spef2 G A 15: 9,578,401 (GRCm39) Q1708* probably null Het
Taf2 A T 15: 54,926,464 (GRCm39) V162E probably null Het
Tbc1d23 A T 16: 57,032,748 (GRCm39) N154K possibly damaging Het
Tbx3 A G 5: 119,818,960 (GRCm39) S532G probably benign Het
Tedc1 T C 12: 113,121,310 (GRCm39) I177T probably benign Het
Tnrc6b G C 15: 80,764,262 (GRCm39) G588A probably damaging Het
Top2a T A 11: 98,901,368 (GRCm39) K519* probably null Het
Trim47 T A 11: 115,999,148 (GRCm39) M243L probably benign Het
Ttn A T 2: 76,641,865 (GRCm39) probably null Het
Uggt1 T C 1: 36,221,696 (GRCm39) E624G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r9 A G 5: 108,996,099 (GRCm39) V183A possibly damaging Het
Zfp212 T A 6: 47,906,032 (GRCm39) V197E 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
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
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'- AAGCAGGTGCCAGCATTTC -3'
(R):5'- AAACTGAGCCATGGGATCCC -3'

Sequencing Primer
(F):5'- AGGTGCCAGCATTTCTCTCAC -3'
(R):5'- CCTCGGGGATCTCTGAGCATTAG -3'
Posted On 2022-02-07