Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Nscme3l'

531836

Institutional Source

Beutler Lab

Gene Symbol

Nscme3l

Ensembl Gene

ENSMUSG00000100937

Gene Name

NSE3 homolog, SMC5-SMC6 complex component like

Synonyms

1700020D05Rik

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6764 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5552795-5553815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5552900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 294 (S294P)

Ref Sequence

ENSEMBL: ENSMUSP00000140922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000189704]

AlphaFold

Q99PB1

Predicted Effect

probably benign
Transcript: ENSMUST00000070172

SMART Domains

Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185

Domain	Start	End	E-Value	Type
Pfam:PX	24	165	1.4e-19	PFAM
Pfam:Vps5	183	394	9.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189704
AA Change: S294P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937
AA Change: S294P

Domain	Start	End	E-Value	Type
Pfam:MAGE	82	253	2.2e-57	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fgd5	T	A	6: 91,966,402 (GRCm39)	N720K	probably damaging	Het
Fmn1	A	G	2: 113,355,560 (GRCm39)	E667G	unknown	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Ints2	T	A	11: 86,103,605 (GRCm39)	K1150N	probably benign	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Tbc1d24	A	C	17: 24,404,754 (GRCm39)	F130C	possibly damaging	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	probably damaging	Het

Other mutations in Nscme3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02983:Nscme3l	APN	19	5,553,209 (GRCm39)	missense	possibly damaging	0.46
IGL03285:Nscme3l	APN	19	5,553,205 (GRCm39)	missense	probably damaging	1.00
R4445:Nscme3l	UTSW	19	5,553,022 (GRCm39)	missense	probably damaging	1.00
R4804:Nscme3l	UTSW	19	5,553,028 (GRCm39)	missense	possibly damaging	0.82
R5449:Nscme3l	UTSW	19	5,553,292 (GRCm39)	missense	probably benign	0.44
R5542:Nscme3l	UTSW	19	5,553,463 (GRCm39)	missense	probably damaging	0.99
R6435:Nscme3l	UTSW	19	5,553,446 (GRCm39)	missense	probably benign	0.06
R6476:Nscme3l	UTSW	19	5,553,253 (GRCm39)	missense	probably damaging	1.00
R7102:Nscme3l	UTSW	19	5,553,623 (GRCm39)	missense	probably benign	0.00
R7232:Nscme3l	UTSW	19	5,553,659 (GRCm39)	missense	possibly damaging	0.87
R7541:Nscme3l	UTSW	19	5,553,439 (GRCm39)	missense	probably benign	0.40
R7640:Nscme3l	UTSW	19	5,553,035 (GRCm39)	missense	probably damaging	1.00
R9459:Nscme3l	UTSW	19	5,553,757 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGTACGACATGCATGCAC -3'
(R):5'- AGATCCTGTGGACTGTGAGCTC -3'

Sequencing Primer
(F):5'- TGGCCTTGAACTCAGAGATTCAC -3'
(R):5'- ACTGTGAGCTCCAGTGGG -3'

Posted On

2018-08-29