Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02172:Nemp1'

282920

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nemp1

Ensembl Gene

ENSMUSG00000040195

Gene Name

nuclear envelope integral membrane protein 1

Synonyms

Tmem194

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

127512934-127536918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127528868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 191 (S191G)

Ref Sequence

ENSEMBL: ENSMUSP00000045988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000118612] [ENSMUST00000118728]

AlphaFold

Q6ZQE4

Predicted Effect

probably benign
Transcript: ENSMUST00000048099
AA Change: S191G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: S191G

Domain	Start	End	E-Value	Type
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: S191G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
AA Change: S191G

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:DUF2215	149	325	4.2e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118728
AA Change: S142G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: S142G

Domain	Start	End	E-Value	Type
Pfam:DUF2215	100	348	7.2e-105	PFAM
low complexity region	367	377	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,341,817 (GRCm39)	V1048A	probably benign	Het
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,367,097 (GRCm39)	V810A	probably benign	Het
Atf1	T	A	15: 100,152,322 (GRCm39)	V105E	probably damaging	Het
Bbs9	C	T	9: 22,490,772 (GRCm39)	T300I	possibly damaging	Het
Bltp1	T	C	3: 37,059,022 (GRCm39)	V3236A	probably damaging	Het
Brd7	G	T	8: 89,078,452 (GRCm39)	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681 (GRCm38)	K238R	probably damaging	Het
Chordc1	A	G	9: 18,213,388 (GRCm39)	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,676,155 (GRCm39)	C126*	probably null	Het
Col24a1	A	T	3: 145,020,723 (GRCm39)	T365S	probably benign	Het
Crb1	C	T	1: 139,164,965 (GRCm39)	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,150,082 (GRCm39)	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,637,446 (GRCm39)	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,125,041 (GRCm39)	C294S	probably damaging	Het
Fam135a	A	G	1: 24,063,861 (GRCm39)		probably null	Het
Fsd1	G	T	17: 56,297,244 (GRCm39)		probably benign	Het
Gatad2b	A	G	3: 90,262,978 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,680,382 (GRCm39)	D232G	probably damaging	Het
Gm10553	T	C	1: 85,078,015 (GRCm39)	L44P	probably damaging	Het
Hecw1	T	C	13: 14,438,734 (GRCm39)	Y883C	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Ift172	T	C	5: 31,438,681 (GRCm39)		probably benign	Het
Krtcap3	A	C	5: 31,409,397 (GRCm39)	T55P	probably damaging	Het
Megf6	A	G	4: 154,355,149 (GRCm39)	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,379,574 (GRCm39)	V203A	probably damaging	Het
Myh2	A	T	11: 67,079,878 (GRCm39)	D1084V	possibly damaging	Het
Necap2	T	A	4: 140,805,621 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,088,380 (GRCm39)	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,110,020 (GRCm39)		probably benign	Het
Or51e1	G	A	7: 102,359,051 (GRCm39)	R195H	probably benign	Het
Or51f1d	A	G	7: 102,700,582 (GRCm39)	I26V	probably benign	Het
Prkdc	T	G	16: 15,627,623 (GRCm39)	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,837,317 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,397,422 (GRCm39)	L1095H	probably damaging	Het
Ren1	T	A	1: 133,286,771 (GRCm39)	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,888,134 (GRCm39)	I460T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924 (GRCm39)	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,046,153 (GRCm39)	S282P	probably benign	Het
Slc39a13	T	C	2: 90,893,505 (GRCm39)	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,295,556 (GRCm39)	I82T	probably benign	Het
Stard7	C	A	2: 127,132,792 (GRCm39)	T220N	probably damaging	Het
Tbx4	G	A	11: 85,805,389 (GRCm39)	G493R	possibly damaging	Het
Trerf1	A	T	17: 47,628,743 (GRCm39)		noncoding transcript	Het
Trim59	T	A	3: 68,944,810 (GRCm39)	I177L	probably benign	Het
Trpm7	T	C	2: 126,637,248 (GRCm39)	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,655,132 (GRCm39)	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,931,598 (GRCm39)	M25I	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr90	G	A	17: 26,069,408 (GRCm39)	T1233I	probably benign	Het
Zcchc2	G	A	1: 105,928,664 (GRCm39)	D308N	probably benign	Het
Zfp57	G	T	17: 37,320,481 (GRCm39)	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,622,135 (GRCm39)	Y388N	probably damaging	Het

Other mutations in Nemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16