Incidental Mutation 'R0815:Nemp1'
ID 78577
Institutional Source Beutler Lab
Gene Symbol Nemp1
Ensembl Gene ENSMUSG00000040195
Gene Name nuclear envelope integral membrane protein 1
Synonyms Tmem194
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127512934-127536918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127528893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 199 (L199S)
Ref Sequence ENSEMBL: ENSMUSP00000113337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000118612] [ENSMUST00000118728]
AlphaFold Q6ZQE4
Predicted Effect possibly damaging
Transcript: ENSMUST00000048099
AA Change: L199S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: L199S

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 damaging
Transcript: ENSMUST00000118612
AA Change: L199S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
AA Change: L199S

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:DUF2215 149 325 4.2e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118728
AA Change: L150S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: L150S

DomainStartEndE-ValueType
Pfam:DUF2215 100 348 7.2e-105 PFAM
low complexity region 367 377 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly 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
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
R5784:Nemp1 UTSW 10 127,513,067 (GRCm39) missense possibly damaging 0.86
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'- TTCAGTACCAGGCAGCATCTCCTC -3'
(R):5'- GGTACAGTCTGCAAGGAACACCAAG -3'

Sequencing Primer
(F):5'- GCAGCATCTCCTCTAATCTTGAAAC -3'
(R):5'- AACAAAGTGGCTTTCAGTTCCC -3'
Posted On 2013-10-16