Mutagenetix > Incidental Mutation

Incidental Mutation 'R5240:Nsmce4a'

400727

Institutional Source

Beutler Lab

Gene Symbol

Nsmce4a

Ensembl Gene

ENSMUSG00000040331

Gene Name

NSE4 homolog A, SMC5-SMC6 complex component

Synonyms

2410003A14Rik

MMRRC Submission

042811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130134256-130149111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130138754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 297 (R297C)

Ref Sequence

ENSEMBL: ENSMUSP00000125300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124096] [ENSMUST00000160289]

AlphaFold

G3XA30

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159694

SMART Domains

Protein: ENSMUSP00000124471
Gene: ENSMUSG00000040331

Domain	Start	End	E-Value	Type
Pfam:Nse4-Nse3_bdg	36	94	2.2e-20	PFAM
Pfam:Nse4_C	187	263	1.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160289
AA Change: R297C

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

SMART Domains

Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: R297C

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
low complexity region	51	64	N/A	INTRINSIC
Pfam:Nse4-Nse3_bdg	130	186	6.2e-18	PFAM
Pfam:Nse4_C	282	372	6.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207276

Meta Mutation Damage Score

0.5095

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	C	3: 59,659,449 (GRCm39)	T301P	probably damaging	Het
Cdc42bpg	T	G	19: 6,365,929 (GRCm39)	L786R	probably damaging	Het
Cfap73	C	T	5: 120,767,772 (GRCm39)	V260I	probably damaging	Het
Chchd10	A	T	10: 75,773,283 (GRCm39)	N131I	probably damaging	Het
Chn2	T	C	6: 54,197,680 (GRCm39)	V190A	probably benign	Het
Clec2l	C	T	6: 38,650,387 (GRCm39)	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,151,915 (GRCm39)	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 25,061,960 (GRCm39)	E643G	probably damaging	Het
Ddx31	A	G	2: 28,736,042 (GRCm39)	M127V	probably benign	Het
Dennd1b	A	G	1: 138,990,615 (GRCm39)	Y193C	probably damaging	Het
Dgke	T	A	11: 88,941,511 (GRCm39)	D288V	probably damaging	Het
Dst	T	A	1: 34,247,639 (GRCm39)	L1683*	probably null	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,428,018 (GRCm39)		probably benign	Het
Eif2b5	G	A	16: 20,320,148 (GRCm39)	V115I	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fgfr3	A	T	5: 33,887,382 (GRCm39)	T234S	probably damaging	Het
Gipc2	A	T	3: 151,808,299 (GRCm39)	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810 (GRCm39)		noncoding transcript	Het
Haus6	A	G	4: 86,501,415 (GRCm39)	Y819H	possibly damaging	Het
Homez	G	A	14: 55,095,531 (GRCm39)	A59V	probably damaging	Het
Iffo1	T	C	6: 125,129,423 (GRCm39)	V363A	probably benign	Het
Ifit2	T	A	19: 34,551,796 (GRCm39)	D445E	probably benign	Het
Ipo9	A	C	1: 135,317,344 (GRCm39)		probably benign	Het
Kcnv1	C	T	15: 44,976,640 (GRCm39)	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,292,730 (GRCm39)		probably benign	Het
Mplkip	T	C	13: 17,870,304 (GRCm39)	S79P	probably damaging	Het
Nae1	T	C	8: 105,249,776 (GRCm39)		probably benign	Het
Nfe2l2	A	T	2: 75,506,353 (GRCm39)	N582K	possibly damaging	Het
Or1e1f	T	C	11: 73,855,632 (GRCm39)	L66P	probably damaging	Het
Or3a1d	T	A	11: 74,238,068 (GRCm39)	D114V	probably damaging	Het
Or5p70	A	T	7: 107,994,909 (GRCm39)	D194V	probably damaging	Het
Osbp	T	A	19: 11,955,654 (GRCm39)	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,442,979 (GRCm39)	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,824,103 (GRCm39)	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,338,912 (GRCm39)		probably benign	Het
Pigo	C	A	4: 43,020,675 (GRCm39)	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,345,865 (GRCm39)	T2721K	probably benign	Het
Pls1	A	T	9: 95,658,675 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,519,397 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,589,711 (GRCm39)	I471N	probably benign	Het
Prrc2b	C	T	2: 32,096,408 (GRCm39)	T593I	probably benign	Het
Ptch2	C	A	4: 116,963,335 (GRCm39)		probably benign	Het
Pth	A	T	7: 112,985,051 (GRCm39)	D107E	probably damaging	Het
Pycr2	A	C	1: 180,735,188 (GRCm39)	Q315P	probably benign	Het
Rbpj	A	T	5: 53,806,782 (GRCm39)	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,544,967 (GRCm39)	R560L	probably damaging	Het
Sdr42e1	T	C	8: 118,390,021 (GRCm39)	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,388,362 (GRCm39)	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,316,875 (GRCm39)		probably null	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Sugp2	G	T	8: 70,695,925 (GRCm39)	L299F	probably benign	Het
Tbrg4	A	T	11: 6,567,516 (GRCm39)		probably null	Het
Tkt	G	T	14: 30,287,635 (GRCm39)	G210C	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,771,854 (GRCm39)	I98T	probably benign	Het
Unc5b	A	G	10: 60,610,419 (GRCm39)	I466T	probably damaging	Het
Unc79	T	A	12: 103,037,010 (GRCm39)	F599L	probably damaging	Het
Vav1	G	A	17: 57,604,122 (GRCm39)	E151K	probably damaging	Het
Vcan	T	G	13: 89,840,651 (GRCm39)	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,314,358 (GRCm39)	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,186,642 (GRCm39)	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,220,527 (GRCm39)		probably benign	Het
Znhit1	T	A	5: 137,011,235 (GRCm39)		probably null	Het

Other mutations in Nsmce4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02693:Nsmce4a	APN	7	130,144,538 (GRCm39)	missense	probably damaging	1.00
R0302:Nsmce4a	UTSW	7	130,147,623 (GRCm39)	critical splice donor site	probably benign
R0521:Nsmce4a	UTSW	7	130,138,732 (GRCm39)	missense	probably damaging	1.00
R0529:Nsmce4a	UTSW	7	130,135,536 (GRCm39)	missense	probably benign	0.01
R1378:Nsmce4a	UTSW	7	130,139,900 (GRCm39)	missense	probably benign	0.05
R1542:Nsmce4a	UTSW	7	130,147,623 (GRCm39)	critical splice donor site	probably null
R2249:Nsmce4a	UTSW	7	130,140,769 (GRCm39)	missense	probably benign	0.00
R4860:Nsmce4a	UTSW	7	130,135,321 (GRCm39)	unclassified	probably benign
R5356:Nsmce4a	UTSW	7	130,138,778 (GRCm39)	missense	probably damaging	1.00
R5374:Nsmce4a	UTSW	7	130,139,900 (GRCm39)	missense	probably benign	0.05
R6115:Nsmce4a	UTSW	7	130,148,722 (GRCm39)	missense	probably benign	0.05
R6350:Nsmce4a	UTSW	7	130,140,829 (GRCm39)	missense	probably damaging	0.98
R6451:Nsmce4a	UTSW	7	130,144,479 (GRCm39)
R7203:Nsmce4a	UTSW	7	130,141,602 (GRCm39)	missense	probably benign	0.00
R7422:Nsmce4a	UTSW	7	130,135,547 (GRCm39)	missense	probably benign	0.20
R8187:Nsmce4a	UTSW	7	130,144,519 (GRCm39)	missense	probably benign	0.04
R8873:Nsmce4a	UTSW	7	130,148,886 (GRCm39)	missense	unknown
R8989:Nsmce4a	UTSW	7	130,141,587 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTGGCCTGCTTCAGTAGTTG -3'
(R):5'- ATGGTCTATACCCCACAGCAGG -3'

Sequencing Primer
(F):5'- CTGCTTCAGTAGTTGTGAAAATTTCC -3'
(R):5'- GAGGCCTGCGTGTTCCTTC -3'

Posted On

2016-07-06