Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Nemp1'

661219

Institutional Source

Beutler Lab

Gene Symbol

Nemp1

Ensembl Gene

ENSMUSG00000040195

Gene Name

nuclear envelope integral membrane protein 1

Synonyms

Tmem194

MMRRC Submission

068527-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8672 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

127512934-127536918 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127512988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 8 (S8P)

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: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: S8P

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: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
AA Change: S8P

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Aadat	A	T	8: 60,959,179 (GRCm39)		probably benign	Het
Amigo3	A	G	9: 107,931,375 (GRCm39)	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,323,146 (GRCm39)	M214K	probably damaging	Het
Atp11b	A	T	3: 35,874,066 (GRCm39)	D685V	probably benign	Het
Aunip	T	A	4: 134,250,460 (GRCm39)	M135K	probably benign	Het
Brd10	T	C	19: 29,731,564 (GRCm39)	T483A	probably benign	Het
Card9	T	C	2: 26,247,950 (GRCm39)	T134A	probably benign	Het
Cd46	G	A	1: 194,764,949 (GRCm39)	T216I	probably benign	Het
Chit1	T	C	1: 134,079,005 (GRCm39)	V360A	unknown	Het
Crcp	A	G	5: 130,071,077 (GRCm39)	R59G	probably benign	Het
Csmd1	T	A	8: 15,976,598 (GRCm39)	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,743,986 (GRCm39)	M449L	probably benign	Het
Dpp7	T	C	2: 25,246,133 (GRCm39)	D40G	probably benign	Het
Eif4g3	T	A	4: 137,853,823 (GRCm39)	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,278,524 (GRCm39)	I454V	probably benign	Het
Gbp11	T	A	5: 105,491,675 (GRCm39)	I41F	probably damaging	Het
Gkap1	G	A	13: 58,391,662 (GRCm39)	T231I	probably damaging	Het
Heatr5b	A	G	17: 79,069,632 (GRCm39)	L1705P	probably damaging	Het
Herc3	T	A	6: 58,850,786 (GRCm39)	F467I	probably damaging	Het
Ifih1	T	C	2: 62,435,993 (GRCm39)	E699G	possibly damaging	Het
Ints5	T	A	19: 8,873,370 (GRCm39)	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,276,016 (GRCm39)	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,551,230 (GRCm39)	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,518,890 (GRCm39)	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793 (GRCm39)	D5384G	probably damaging	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,784,063 (GRCm39)	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,895,093 (GRCm39)	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,579 (GRCm39)	N404D	probably damaging	Het
Nwd1	C	G	8: 73,394,007 (GRCm39)	H423Q	probably damaging	Het
Or5a1	C	T	19: 12,097,921 (GRCm39)	V52M	probably benign	Het
Or6c66b	T	A	10: 129,376,596 (GRCm39)	N63K	probably damaging	Het
Or8j3c	T	A	2: 86,253,976 (GRCm39)	M15L	probably benign	Het
Pcdh9	T	C	14: 94,124,529 (GRCm39)	N547S	probably benign	Het
Pdha2	C	A	3: 140,917,124 (GRCm39)	R128L	probably damaging	Het
Pebp1	A	G	5: 117,421,336 (GRCm39)	Y181H	probably benign	Het
Peg3	T	G	7: 6,711,523 (GRCm39)	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,642,107 (GRCm39)	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,393,841 (GRCm39)	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,270,846 (GRCm39)	M647R	probably damaging	Het
Rp1	A	G	1: 4,419,007 (GRCm39)	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161 (GRCm39)	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,123,334 (GRCm39)	V433D	possibly damaging	Het
Spata31h1	A	T	10: 82,127,726 (GRCm39)	N1761K	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,686,559 (GRCm39)	K705N	probably damaging	Het
Thbs1	C	A	2: 117,943,719 (GRCm39)	N112K	probably benign	Het
Zfp658	T	C	7: 43,222,919 (GRCm39)	I398T	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
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
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'- TGTCGTCACTGCCAGGATTG -3'
(R):5'- CTCGGGATAAGAAACCACTTTTCC -3'

Sequencing Primer
(F):5'- CCAGGATTGGCGTTGCTAG -3'
(R):5'- GAAACCACTTTTCCACATTTAACG -3'

Posted On

2021-03-08