Mutagenetix > Incidental Mutation

Incidental Mutation 'R3782:Nsmce1'

272084

Institutional Source

Beutler Lab

Gene Symbol

Nsmce1

Ensembl Gene

ENSMUSG00000030750

Gene Name

NSE1 homolog, SMC5-SMC6 complex component

Synonyms

2510027N19Rik

MMRRC Submission

040751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R3782 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

125066816-125090615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125085549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 47 (V47I)

Ref Sequence

ENSEMBL: ENSMUSP00000033006 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033006]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033006
AA Change: V47I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000033006
Gene: ENSMUSG00000030750
AA Change: V47I

Domain	Start	End	E-Value	Type
Pfam:SMC_Nse1	29	190	9.2e-26	PFAM
Pfam:zf-RING-like	205	245	7.8e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000138616
AA Change: V71I

SMART Domains

Protein: ENSMUSP00000118058
Gene: ENSMUSG00000030750
AA Change: V71I

Domain	Start	End	E-Value	Type
Pfam:SMC_Nse1	54	200	3e-23	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aimp2	T	A	5: 143,843,517 (GRCm39)	K24N	possibly damaging	Het
Atf6	A	T	1: 170,622,336 (GRCm39)	Y428*	probably null	Het
BC034090	T	C	1: 155,102,024 (GRCm39)	E80G	probably damaging	Het
Calcr	T	C	6: 3,700,193 (GRCm39)	T263A	possibly damaging	Het
Cdh20	T	A	1: 109,976,734 (GRCm39)	V133E	probably benign	Het
Cpsf3	A	C	12: 21,350,067 (GRCm39)	E262A	possibly damaging	Het
Ddx5	T	C	11: 106,675,346 (GRCm39)	I330V	probably benign	Het
Dlg5	A	G	14: 24,240,378 (GRCm39)		probably benign	Het
Enam	A	T	5: 88,650,674 (GRCm39)	S653C	probably damaging	Het
Fndc3b	A	T	3: 27,514,135 (GRCm39)	V682D	possibly damaging	Het
Guf1	A	T	5: 69,724,495 (GRCm39)	M396L	probably benign	Het
H2-Q10	A	G	17: 35,781,915 (GRCm39)	Y179C	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hpgd	G	A	8: 56,751,453 (GRCm39)	V94M	probably damaging	Het
Ktn1	G	A	14: 47,943,860 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,836,356 (GRCm39)	H1165P	possibly damaging	Het
Lrrfip1	A	G	1: 91,039,911 (GRCm39)	T205A	possibly damaging	Het
Mcm7	G	A	5: 138,162,998 (GRCm39)	R385W	probably damaging	Het
Mgat4c	A	G	10: 102,224,782 (GRCm39)	E332G	probably benign	Het
Mpp7	A	T	18: 7,351,085 (GRCm39)	H537Q	probably damaging	Het
Mx1	T	C	16: 97,253,195 (GRCm39)	D380G	possibly damaging	Het
Nckap5	T	A	1: 125,952,811 (GRCm39)	Q1183L	possibly damaging	Het
Nkx1-2	A	G	7: 132,199,161 (GRCm39)	V200A	probably damaging	Het
Nr3c2	T	A	8: 77,812,313 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,799,782 (GRCm39)	S134P	possibly damaging	Het
Or1e26	C	A	11: 73,479,839 (GRCm39)	G242C	probably damaging	Het
Or1e26	A	T	11: 73,480,194 (GRCm39)	Y123*	probably null	Het
Or5g9	G	A	2: 85,552,040 (GRCm39)	C97Y	probably damaging	Het
Pcnx1	A	G	12: 82,042,892 (GRCm39)	T2325A	probably benign	Het
Phactr4	A	T	4: 132,095,178 (GRCm39)		probably null	Het
Rnf7l	T	A	10: 63,257,472 (GRCm39)	H16L	probably benign	Het
Serpinb6d	T	A	13: 33,848,097 (GRCm39)	D20E	probably benign	Het
Spta1	A	T	1: 174,035,880 (GRCm39)	Y1062F	probably damaging	Het
Ssc5d	A	G	7: 4,945,790 (GRCm39)	T941A	probably benign	Het
Taf11	A	G	17: 28,122,167 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,716,533 (GRCm39)	H286R	probably damaging	Het
Tmem62	T	A	2: 120,807,948 (GRCm39)	W57R	probably damaging	Het
Vmn2r111	T	C	17: 22,790,301 (GRCm39)	Y235C	possibly damaging	Het
Vmn2r22	T	A	6: 123,627,591 (GRCm39)	K2*	probably null	Het
Vmn2r74	A	G	7: 85,605,322 (GRCm39)	V442A	probably benign	Het

Other mutations in Nsmce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0466:Nsmce1	UTSW	7	125,071,408 (GRCm39)	splice site	probably benign
R1271:Nsmce1	UTSW	7	125,070,426 (GRCm39)	missense	probably damaging	0.97
R1403:Nsmce1	UTSW	7	125,067,027 (GRCm39)	unclassified	probably benign
R3039:Nsmce1	UTSW	7	125,070,328 (GRCm39)	missense	probably damaging	1.00
R3196:Nsmce1	UTSW	7	125,085,645 (GRCm39)	missense	probably benign	0.12
R6480:Nsmce1	UTSW	7	125,090,590 (GRCm39)	missense	probably benign
R7047:Nsmce1	UTSW	7	125,090,606 (GRCm39)	missense	probably benign	0.00
R7139:Nsmce1	UTSW	7	125,068,254 (GRCm39)	missense	probably benign	0.12
R7503:Nsmce1	UTSW	7	125,071,106 (GRCm39)	missense	probably benign	0.00
R7684:Nsmce1	UTSW	7	125,070,348 (GRCm39)	missense	probably damaging	1.00
R8166:Nsmce1	UTSW	7	125,070,319 (GRCm39)	missense	probably damaging	1.00
R9554:Nsmce1	UTSW	7	125,066,994 (GRCm39)	missense	possibly damaging	0.62
Z1177:Nsmce1	UTSW	7	125,085,628 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCAGACTAAATGGCAGTCAC -3'
(R):5'- TGCAGTGCGTGTTTCTGAAC -3'

Sequencing Primer
(F):5'- CTCAGACTAAATGGCAGTCACTTTGG -3'
(R):5'- TTCTGAACATGATGGAGTACAGACCC -3'

Posted On

2015-03-25