Incidental Mutation 'R5784:Nemp1'
ID 447927
Institutional Source Beutler Lab
Gene Symbol Nemp1
Ensembl Gene ENSMUSG00000040195
Gene Name nuclear envelope integral membrane protein 1
Synonyms Tmem194
MMRRC Submission 043381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5784 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127512934-127536918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127513067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 34 (V34D)
Ref Sequence ENSEMBL: ENSMUSP00000045988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000118612] [ENSMUST00000118728]
AlphaFold Q6ZQE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000048099
AA Change: V34D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: V34D

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:DUF2215 150 396 1.2e-94 PFAM
low complexity region 416 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118612
AA Change: V34D

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
AA Change: V34D

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:DUF2215 149 325 4.2e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118728
SMART Domains Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195

DomainStartEndE-ValueType
Pfam:DUF2215 100 348 7.2e-105 PFAM
low complexity region 367 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155550
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,441 (GRCm39) R292G possibly damaging Het
4932416K20Rik T A 8: 105,524,261 (GRCm39) noncoding transcript Het
Aox3 A G 1: 58,192,658 (GRCm39) D544G probably benign Het
Atg2a C A 19: 6,311,535 (GRCm39) A1830D probably damaging Het
Casp1 T C 9: 5,299,337 (GRCm39) I22T probably damaging Het
Ccdc141 A C 2: 76,859,671 (GRCm39) L990W probably damaging Het
Cnbd2 A G 2: 156,180,577 (GRCm39) T125A probably damaging Het
Cnep1r1 T A 8: 88,857,354 (GRCm39) probably benign Het
Dhx38 G T 8: 110,286,245 (GRCm39) Y348* probably null Het
Dnah7c A T 1: 46,563,228 (GRCm39) I593L possibly damaging Het
Dpep3 T C 8: 106,705,375 (GRCm39) D125G probably benign Het
Eif1ad10 T A 12: 88,216,525 (GRCm39) N116Y probably damaging Het
Epb41l4b A C 4: 57,086,003 (GRCm39) S191A probably damaging Het
Etl4 A G 2: 20,811,016 (GRCm39) Y1033C possibly damaging Het
Fam193a T C 5: 34,623,567 (GRCm39) L32P probably damaging Het
Grin2c T C 11: 115,149,121 (GRCm39) E159G possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdhd2 A T 18: 77,054,841 (GRCm39) D205V probably damaging Het
Helz T A 11: 107,561,307 (GRCm39) N774K unknown Het
Idh3b A G 2: 130,121,591 (GRCm39) V71A probably damaging Het
Lars1 T C 18: 42,352,964 (GRCm39) M818V probably benign Het
Ltbp2 A G 12: 84,915,513 (GRCm39) V162A probably damaging Het
Ltk G A 2: 119,584,840 (GRCm39) Q136* probably null Het
Mafb A T 2: 160,208,461 (GRCm39) C46S probably damaging Het
Map1s T C 8: 71,367,002 (GRCm39) S636P probably damaging Het
Map3k13 A G 16: 21,717,391 (GRCm39) K209E possibly damaging Het
Mppe1 T C 18: 67,361,098 (GRCm39) N220D probably benign Het
Mydgf T C 17: 56,485,254 (GRCm39) probably benign Het
Myh6 T C 14: 55,190,521 (GRCm39) K999E possibly damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Or10x4 G A 1: 174,218,965 (GRCm39) C110Y probably damaging Het
Or13g1 T C 7: 85,955,743 (GRCm39) N193D probably damaging Het
Or9q2 A T 19: 13,772,710 (GRCm39) H88Q probably benign Het
Papln A G 12: 83,828,754 (GRCm39) N820S probably benign Het
Pcdh10 T G 3: 45,335,075 (GRCm39) F463C probably damaging Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Radil G T 5: 142,473,268 (GRCm39) H804Q possibly damaging Het
Rbfox1 A T 16: 7,042,203 (GRCm39) D39V probably damaging Het
Rims2 T G 15: 39,399,383 (GRCm39) probably null Het
Rnf121 A G 7: 101,684,583 (GRCm39) F110S probably benign Het
Saxo2 C T 7: 82,284,082 (GRCm39) V259I probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc2a3 A T 6: 122,712,376 (GRCm39) probably null Het
Traf2 A T 2: 25,429,049 (GRCm39) V6E probably benign Het
Trim43c A T 9: 88,729,696 (GRCm39) N379I probably benign Het
Ubr4 C G 4: 139,152,529 (GRCm39) C1973W probably damaging Het
Unc13a G T 8: 72,108,310 (GRCm39) D514E possibly damaging Het
Wdr27 T A 17: 15,146,495 (GRCm39) T167S probably damaging Het
Zfp174 A T 16: 3,672,438 (GRCm39) E329V probably benign Het
Zfp422 A T 6: 116,603,771 (GRCm39) I76N probably damaging Het
Other mutations in Nemp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Nemp1 APN 10 127,528,868 (GRCm39) missense probably benign 0.02
Assassin UTSW 10 127,525,212 (GRCm39) nonsense probably null
Brightside UTSW 10 127,525,319 (GRCm39) splice site probably null
Cheery UTSW 10 127,513,067 (GRCm39) missense possibly damaging 0.86
kidon UTSW 10 127,525,227 (GRCm39) missense possibly damaging 0.85
PIT4453001:Nemp1 UTSW 10 127,532,123 (GRCm39) missense probably benign 0.00
R0815:Nemp1 UTSW 10 127,528,893 (GRCm39) missense probably damaging 0.99
R1719:Nemp1 UTSW 10 127,532,117 (GRCm39) missense probably damaging 1.00
R2007:Nemp1 UTSW 10 127,529,446 (GRCm39) missense probably benign 0.02
R2042:Nemp1 UTSW 10 127,532,203 (GRCm39) missense possibly damaging 0.46
R3938:Nemp1 UTSW 10 127,531,342 (GRCm39) missense probably damaging 1.00
R4548:Nemp1 UTSW 10 127,532,213 (GRCm39) missense probably benign 0.00
R4726:Nemp1 UTSW 10 127,530,462 (GRCm39) missense probably benign 0.01
R4981:Nemp1 UTSW 10 127,529,399 (GRCm39) missense probably damaging 1.00
R5048:Nemp1 UTSW 10 127,526,804 (GRCm39) critical splice donor site probably null
R6073:Nemp1 UTSW 10 127,525,112 (GRCm39) missense probably benign 0.01
R6171:Nemp1 UTSW 10 127,525,319 (GRCm39) splice site probably null
R6294:Nemp1 UTSW 10 127,530,391 (GRCm39) missense possibly damaging 0.87
R7249:Nemp1 UTSW 10 127,529,395 (GRCm39) missense probably damaging 1.00
R7269:Nemp1 UTSW 10 127,531,345 (GRCm39) missense probably damaging 1.00
R7316:Nemp1 UTSW 10 127,525,212 (GRCm39) nonsense probably null
R7468:Nemp1 UTSW 10 127,528,923 (GRCm39) missense possibly damaging 0.56
R7998:Nemp1 UTSW 10 127,529,358 (GRCm39) missense probably damaging 1.00
R8342:Nemp1 UTSW 10 127,528,898 (GRCm39) missense probably benign 0.00
R8672:Nemp1 UTSW 10 127,512,988 (GRCm39) missense probably benign
R8756:Nemp1 UTSW 10 127,528,845 (GRCm39) missense probably benign 0.30
R9228:Nemp1 UTSW 10 127,525,227 (GRCm39) missense possibly damaging 0.85
R9749:Nemp1 UTSW 10 127,524,198 (GRCm39) missense probably benign 0.44
X0011:Nemp1 UTSW 10 127,525,180 (GRCm39) nonsense probably null
Z1177:Nemp1 UTSW 10 127,529,388 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTCGTCACTGCCAGGATTG -3'
(R):5'- CCCAGAAATCCGTTTTAACTCAG -3'

Sequencing Primer
(F):5'- CCAGGATTGGCGTTGCTAG -3'
(R):5'- TTCCTGGGGAAGGCTCAG -3'
Posted On 2016-12-15