Incidental Mutation 'R7998:Nemp1'
ID 616204
Institutional Source Beutler Lab
Gene Symbol Nemp1
Ensembl Gene ENSMUSG00000040195
Gene Name nuclear envelope integral membrane protein 1
Synonyms Tmem194
MMRRC Submission 046038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127512934-127536918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127529358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 213 (S213R)
Ref Sequence ENSEMBL: ENSMUSP00000045988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000118612] [ENSMUST00000118728]
AlphaFold Q6ZQE4
Predicted Effect probably damaging
Transcript: ENSMUST00000048099
AA Change: S213R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: S213R

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: S213R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
AA Change: S213R

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: S164R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: S164R

DomainStartEndE-ValueType
Pfam:DUF2215 100 348 7.2e-105 PFAM
low complexity region 367 377 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,818,649 (GRCm39) R216C probably benign Het
Acsl3 C T 1: 78,671,988 (GRCm39) P294L probably damaging Het
Alox12b T C 11: 69,059,663 (GRCm39) Y572H probably damaging Het
Arid1b A G 17: 5,377,959 (GRCm39) D1236G probably damaging Het
Astl T C 2: 127,192,419 (GRCm39) L254P probably damaging Het
Btbd7 A C 12: 102,761,499 (GRCm39) L562R probably damaging Het
Chl1 T C 6: 103,706,250 (GRCm39) V1195A probably benign Het
Ciao2b T A 8: 105,367,668 (GRCm39) S94C probably damaging Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Cog3 G T 14: 75,984,533 (GRCm39) S94Y possibly damaging Het
Cpne6 A C 14: 55,753,751 (GRCm39) Q403P probably damaging Het
Csn1s1 A G 5: 87,822,087 (GRCm39) N119S possibly damaging Het
Cux2 T C 5: 122,006,648 (GRCm39) D874G possibly damaging Het
Dicer1 A T 12: 104,670,328 (GRCm39) F1079Y probably damaging Het
Dsc2 T A 18: 20,167,720 (GRCm39) Q724H possibly damaging Het
Fbxw16 A G 9: 109,265,766 (GRCm39) V351A probably damaging Het
G2e3 A T 12: 51,400,624 (GRCm39) E59D probably benign Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm10837 G T 14: 122,728,053 (GRCm39) probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr18 T C 14: 122,149,393 (GRCm39) I211V probably benign Het
Gstm7 T A 3: 107,837,657 (GRCm39) D98V probably damaging Het
Hspa8 A G 9: 40,715,810 (GRCm39) Y525C probably damaging Het
Itga7 T C 10: 128,770,020 (GRCm39) S55P probably damaging Het
Itpr1 T C 6: 108,394,909 (GRCm39) V1674A possibly damaging Het
Itsn1 G T 16: 91,647,824 (GRCm39) G893C unknown Het
Kcnc1 A G 7: 46,047,223 (GRCm39) D41G probably benign Het
Larp6 A G 9: 60,631,638 (GRCm39) K137E probably damaging Het
Leo1 G T 9: 75,352,558 (GRCm39) G34C probably benign Het
Map4 G A 9: 109,908,929 (GRCm39) V1050M probably damaging Het
Mast3 A G 8: 71,236,214 (GRCm39) V722A probably benign Het
Med28 T A 5: 45,682,541 (GRCm39) V69D probably damaging Het
Mier1 T C 4: 103,019,812 (GRCm39) F512S probably benign Het
Mix23 T A 16: 35,905,403 (GRCm39) V65D probably benign Het
Mov10l1 T A 15: 88,937,642 (GRCm39) V1147E probably damaging Het
Mroh7 T C 4: 106,568,478 (GRCm39) E409G probably benign Het
Muc16 G T 9: 18,551,188 (GRCm39) P5035Q probably benign Het
Npffr2 T C 5: 89,731,149 (GRCm39) Y360H probably damaging Het
Nrxn2 T C 19: 6,559,905 (GRCm39) V1221A probably damaging Het
Nup107 A G 10: 117,593,899 (GRCm39) F765L probably damaging Het
Nup188 T C 2: 30,220,983 (GRCm39) L991P probably damaging Het
Or13f5 A T 4: 52,825,970 (GRCm39) D191V possibly damaging Het
Or5ac23 T A 16: 59,149,633 (GRCm39) M80L probably benign Het
Pla2g7 A T 17: 43,922,209 (GRCm39) I363L probably benign Het
Ppp2r1a T C 17: 21,181,901 (GRCm39) F473S possibly damaging Het
Prex1 A G 2: 166,428,965 (GRCm39) probably null Het
Ptov1 A G 7: 44,514,353 (GRCm39) V263A probably damaging Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Sdk2 T A 11: 113,750,764 (GRCm39) I550F probably benign Het
Shprh T A 10: 11,061,085 (GRCm39) W1133R probably damaging Het
Slc28a2b T C 2: 122,324,839 (GRCm39) L137P probably damaging Het
Syne2 T C 12: 76,134,632 (GRCm39) V1297A probably damaging Het
Themis2 A G 4: 132,519,875 (GRCm39) I50T probably damaging Het
Tmprss15 C A 16: 78,798,731 (GRCm39) L650F possibly damaging Het
Ttc41 C A 10: 86,572,711 (GRCm39) N694K probably benign Het
Ttll9 T C 2: 152,833,546 (GRCm39) Y215H possibly damaging Het
Ttn C A 2: 76,733,653 (GRCm39) V4541L unknown Het
Usp32 G T 11: 84,885,252 (GRCm39) A1265E probably damaging Het
Vcan T A 13: 89,852,446 (GRCm39) D838V probably damaging Het
Vmn2r88 T C 14: 51,651,565 (GRCm39) I293T Het
Wdr36 T G 18: 32,985,572 (GRCm39) D496E probably damaging Het
Wrn T C 8: 33,782,671 (GRCm39) N753S probably benign Het
Zmat3 T C 3: 32,395,815 (GRCm39) R231G 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
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
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
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'- TGGGAACTGAAAGCCACTTTG -3'
(R):5'- CAAGGAGCATCTTCTCACAATC -3'

Sequencing Primer
(F):5'- GGGAACTGAAAGCCACTTTGTTTAG -3'
(R):5'- GGAGCATCTTCTCACAATCAAATC -3'
Posted On 2020-01-23