Mutagenetix > Incidental Mutation

Incidental Mutation 'R6171:Nemp1'

501904

Institutional Source

Beutler Lab

Gene Symbol

Nemp1

Ensembl Gene

ENSMUSG00000040195

Gene Name

nuclear envelope integral membrane protein 1

Synonyms

Tmem194

MMRRC Submission

044314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127512934-127536918 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 127525319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113473 (fasta)

Gene Model

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

AlphaFold

Q6ZQE4

Predicted Effect

probably null
Transcript: ENSMUST00000048099

SMART Domains

Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195

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 null
Transcript: ENSMUST00000118612

SMART Domains

Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195

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

Predicted Effect

probably null
Transcript: ENSMUST00000118728

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	A	G	4: 126,211,110 (GRCm39)	V269A	probably damaging	Het
Atp11a	T	A	8: 12,882,663 (GRCm39)	V517D	probably damaging	Het
Atr	C	T	9: 95,763,324 (GRCm39)	Q1073*	probably null	Het
C87436	A	C	6: 86,422,449 (GRCm39)	T8P	probably benign	Het
Clasrp	T	C	7: 19,318,747 (GRCm39)		probably benign	Het
Creb3l1	G	T	2: 91,821,614 (GRCm39)	Q254K	probably damaging	Het
Dapl1	C	A	2: 59,326,946 (GRCm39)	T64K	probably benign	Het
Dnah2	A	T	11: 69,313,868 (GRCm39)	L4168Q	probably damaging	Het
Dnttip2	T	A	3: 122,072,511 (GRCm39)	I597N	probably damaging	Het
Dyrk1b	A	T	7: 27,885,975 (GRCm39)		probably null	Het
Elk3	G	T	10: 93,085,906 (GRCm39)	P132Q	probably damaging	Het
Galt	C	T	4: 41,757,541 (GRCm39)	P238S	probably damaging	Het
Gm10322	T	C	10: 59,452,084 (GRCm39)	V67A	possibly damaging	Het
Ice1	T	C	13: 70,754,850 (GRCm39)	Y412C	probably benign	Het
Kcna1	A	T	6: 126,619,286 (GRCm39)	Y345N	probably damaging	Het
Kif1b	T	C	4: 149,342,505 (GRCm39)	Y419C	probably damaging	Het
Klf15	G	T	6: 90,443,601 (GRCm39)	A59S	possibly damaging	Het
Mettl17	T	A	14: 52,126,236 (GRCm39)	Y162N	probably damaging	Het
Myh10	G	A	11: 68,682,716 (GRCm39)	R1050Q	probably damaging	Het
Nek4	T	C	14: 30,692,304 (GRCm39)	V376A	probably benign	Het
Nlrp9a	T	C	7: 26,258,188 (GRCm39)	I602T	possibly damaging	Het
Nphp4	T	C	4: 152,628,906 (GRCm39)	V764A	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or8c17	C	T	9: 38,179,898 (GRCm39)	Q22*	probably null	Het
Osbp2	A	T	11: 3,667,221 (GRCm39)		probably null	Het
Pax2	A	G	19: 44,779,179 (GRCm39)	Y185C	probably damaging	Het
Pdyn	A	T	2: 129,530,268 (GRCm39)	S134T	possibly damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Ppp1r13l	A	G	7: 19,111,436 (GRCm39)	M754V	probably benign	Het
Prr23a3	T	A	9: 98,747,731 (GRCm39)	N228K	probably benign	Het
Psmd12	T	C	11: 107,382,733 (GRCm39)	F213L	probably damaging	Het
Qser1	A	T	2: 104,619,628 (GRCm39)	S395T	probably damaging	Het
Rab7b	A	G	1: 131,626,372 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,738,709 (GRCm39)	L2821*	probably null	Het
Rplp0	A	G	5: 115,699,219 (GRCm39)	N127S	probably benign	Het
Serpina9	G	T	12: 103,974,678 (GRCm39)	Y158*	probably null	Het
Sis	G	A	3: 72,868,360 (GRCm39)	T110M	possibly damaging	Het
Slc43a2	A	G	11: 75,453,876 (GRCm39)	Y263C	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stard13	A	T	5: 151,016,227 (GRCm39)	V88E	probably damaging	Het
Trim29	G	A	9: 43,230,674 (GRCm39)	E286K	probably damaging	Het
Vmn2r24	T	C	6: 123,764,205 (GRCm39)	S361P	probably damaging	Het
Wnk2	T	C	13: 49,214,308 (GRCm39)	T18A	probably damaging	Het
Xylb	C	T	9: 119,210,657 (GRCm39)	T380M	probably damaging	Het
Zbtb5	T	C	4: 44,994,119 (GRCm39)	T422A	probably benign	Het
Zhx2	A	G	15: 57,686,602 (GRCm39)	E657G	probably damaging	Het

Other mutations in Nemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GTAAATAGTTCCAAGTTGGTCCGAG -3'
(R):5'- TGGGCTACAGACGCTTATGTC -3'

Sequencing Primer
(F):5'- AAGTTGGTCCGAGTTACCCAG -3'
(R):5'- CTTATGTCAAGTGGAGTCGCC -3'

Posted On

2017-12-04