Incidental Mutation 'R3938:Nemp1'
ID 307290
Institutional Source Beutler Lab
Gene Symbol Nemp1
Ensembl Gene ENSMUSG00000040195
Gene Name nuclear envelope integral membrane protein 1
Synonyms Tmem194
MMRRC Submission 040825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3938 (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 127531342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 311 (L311P)
Ref Sequence ENSEMBL: ENSMUSP00000113473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000118612] [ENSMUST00000118728]
AlphaFold Q6ZQE4
Predicted Effect probably damaging
Transcript: ENSMUST00000048099
AA Change: L360P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: L360P

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
SMART Domains Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:DUF2215 149 325 4.2e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118728
AA Change: L311P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: L311P

DomainStartEndE-ValueType
Pfam:DUF2215 100 348 7.2e-105 PFAM
low complexity region 367 377 N/A INTRINSIC
Meta Mutation Damage Score 0.9267 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
Arid4b A T 13: 14,361,513 (GRCm39) N659I probably benign Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Bmp4 T C 14: 46,621,536 (GRCm39) Y336C probably damaging Het
Ccdc30 G A 4: 119,209,870 (GRCm39) T293I probably benign Het
Chd5 A T 4: 152,461,512 (GRCm39) T1275S probably benign Het
Chtf8 A T 8: 107,612,537 (GRCm39) M134K probably benign Het
Col11a2 A T 17: 34,258,599 (GRCm39) probably benign Het
Cyp8b1 A G 9: 121,744,684 (GRCm39) V216A probably benign Het
Dnah8 C T 17: 31,073,911 (GRCm39) T4527M probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Erap1 T A 13: 74,816,147 (GRCm39) L92Q probably damaging Het
Exoc3l G T 8: 106,020,037 (GRCm39) P296H probably damaging Het
Fcgbpl1 C T 7: 27,853,719 (GRCm39) P1561L probably damaging Het
Foxl3 A T 5: 138,806,723 (GRCm39) N78Y probably damaging Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,162 (GRCm39) N133K probably benign Het
Itgax G T 7: 127,735,445 (GRCm39) R504S possibly damaging Het
Itgb4 A G 11: 115,896,752 (GRCm39) S1461G possibly damaging Het
Klkb1 G T 8: 45,735,838 (GRCm39) T175K probably damaging Het
Lrrk2 A T 15: 91,596,983 (GRCm39) D525V possibly damaging Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga1 G T 17: 30,076,596 (GRCm39) Q59K probably damaging Het
Mpp4 A G 1: 59,163,842 (GRCm39) V466A possibly damaging Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nup205 A G 6: 35,196,677 (GRCm39) R1138G probably damaging Het
Nup54 A G 5: 92,565,388 (GRCm39) M443T probably damaging Het
Peak1 T C 9: 56,167,649 (GRCm39) E93G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Poll A G 19: 45,546,857 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Pygm A T 19: 6,442,980 (GRCm39) I556F probably benign Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rcor3 G T 1: 191,785,385 (GRCm39) T361K possibly damaging Het
Robo4 A G 9: 37,313,313 (GRCm39) probably benign Het
Rps15 T C 10: 80,129,673 (GRCm39) V96A probably benign Het
Rrm2 T A 12: 24,759,431 (GRCm39) N55K probably damaging Het
Shank2 T C 7: 143,682,112 (GRCm39) Y382H probably benign Het
Slc25a10 G T 11: 120,382,819 (GRCm39) E3* probably null Het
Slc7a8 T A 14: 54,973,298 (GRCm39) E223V probably benign Het
Snx13 A G 12: 35,194,096 (GRCm39) K880E probably benign Het
Spinkl T G 18: 44,301,216 (GRCm39) M41L probably benign Het
Srp54a A C 12: 55,136,042 (GRCm39) N19T probably benign Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Sytl1 G A 4: 132,982,935 (GRCm39) Q359* probably null Het
Tlr6 A T 5: 65,110,938 (GRCm39) F656L probably damaging Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tmem45a2 C T 16: 56,859,398 (GRCm39) D278N probably benign Het
Trav7-1 T C 14: 52,892,791 (GRCm39) probably benign Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Ttc21a A G 9: 119,779,882 (GRCm39) probably benign Het
Usp9y C T Y: 1,313,741 (GRCm39) M2188I probably damaging Het
Utrn C A 10: 12,625,774 (GRCm39) probably null Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Zfp955b T A 17: 33,524,390 (GRCm39) Y59F 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
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'- AAGCTGGGTGATGACTGTCG -3'
(R):5'- GCTCCTAGGTGAGCAATAATCAAAG -3'

Sequencing Primer
(F):5'- TGTCTCCTGGGACAAGTGGAC -3'
(R):5'- GGGCAAAATACAACACTGTTATCTGG -3'
Posted On 2015-04-17