Mutagenetix > Incidental Mutations

Incidental Mutation 'R3938:Nemp1'

307290

Institutional Source

Beutler Lab

Gene Symbol

Nemp1

Ensembl Gene

ENSMUSG00000040195

Gene Name

nuclear envelope integral membrane protein 1

Synonyms

Tmem194

MMRRC Submission

040825-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127666901-127701049 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127695473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 311 (L311P)

Ref Sequence

ENSEMBL: ENSMUSP00000113473 (fasta)

Gene Model

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

AlphaFold

Q6ZQE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000048099
AA Change: L360P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: L360P

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

probably damaging
Transcript: ENSMUST00000118728
AA Change: L311P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: L311P

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

0.9267

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	probably damaging	Het

Other mutations in Nemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02172:Nemp1	APN	10	127692999	missense	probably benign	0.02
Assassin	UTSW	10	127689343	nonsense	probably null
Brightside	UTSW	10	127689450	splice site	probably null
Cheery	UTSW	10	127677198	missense	possibly damaging	0.86
PIT4453001:Nemp1	UTSW	10	127696254	missense	probably benign	0.00
R0815:Nemp1	UTSW	10	127693024	missense	probably damaging	0.99
R1719:Nemp1	UTSW	10	127696248	missense	probably damaging	1.00
R2007:Nemp1	UTSW	10	127693577	missense	probably benign	0.02
R2042:Nemp1	UTSW	10	127696334	missense	possibly damaging	0.46
R4548:Nemp1	UTSW	10	127696344	missense	probably benign	0.00
R4726:Nemp1	UTSW	10	127694593	missense	probably benign	0.01
R4981:Nemp1	UTSW	10	127693530	missense	probably damaging	1.00
R5048:Nemp1	UTSW	10	127690935	critical splice donor site	probably null
R5784:Nemp1	UTSW	10	127677198	missense	possibly damaging	0.86
R6073:Nemp1	UTSW	10	127689243	missense	probably benign	0.01
R6171:Nemp1	UTSW	10	127689450	splice site	probably null
R6294:Nemp1	UTSW	10	127694522	missense	possibly damaging	0.87
R7249:Nemp1	UTSW	10	127693526	missense	probably damaging	1.00
R7269:Nemp1	UTSW	10	127695476	missense	probably damaging	1.00
R7316:Nemp1	UTSW	10	127689343	nonsense	probably null
R7468:Nemp1	UTSW	10	127693054	missense	possibly damaging	0.56
R7998:Nemp1	UTSW	10	127693489	missense	probably damaging	1.00
R8342:Nemp1	UTSW	10	127693029	missense	probably benign	0.00
R8672:Nemp1	UTSW	10	127677119	missense	probably benign
R8756:Nemp1	UTSW	10	127692976	missense	probably benign	0.30
R9228:Nemp1	UTSW	10	127689358	missense	possibly damaging	0.85
X0011:Nemp1	UTSW	10	127689311	nonsense	probably null
Z1177:Nemp1	UTSW	10	127693519	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGCTGGGTGATGACTGTCG -3'
(R):5'- GCTCCTAGGTGAGCAATAATCAAAG -3'

Sequencing Primer
(F):5'- TGTCTCCTGGGACAAGTGGAC -3'
(R):5'- GGGCAAAATACAACACTGTTATCTGG -3'

Posted On

2015-04-17