Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Nemp1'

225104

Institutional Source

Beutler Lab

Gene Symbol

Nemp1

Ensembl Gene

ENSMUSG00000040195

Gene Name

nuclear envelope integral membrane protein 1

Synonyms

Tmem194

MMRRC Submission

040049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127512934-127536918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127532203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 370 (S370P)

Ref Sequence

ENSEMBL: ENSMUSP00000113473 (fasta)

Gene Model

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

AlphaFold

Q6ZQE4

Predicted Effect

probably benign
Transcript: ENSMUST00000048099
AA Change: S419P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: S419P

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

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

possibly damaging
Transcript: ENSMUST00000118728
AA Change: S370P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: S370P

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

0.0903

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,255,494 (GRCm39)	Q132H	probably benign	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly 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
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'- AGGGCAGGACTTTGTTAAATTCG -3'
(R):5'- TCATTCCAGCAGAACTCCTG -3'

Sequencing Primer
(F):5'- CGGTATAATTTGAACTACAGGCACAC -3'
(R):5'- GAACTCCTGCACCCGCTC -3'

Posted On

2014-08-25