Mutagenetix > Incidental Mutation

Incidental Mutation 'R0740:Scml4'

70659

Institutional Source

Beutler Lab

Gene Symbol

Scml4

Ensembl Gene

ENSMUSG00000044770

Gene Name

Scm polycomb group protein like 4

Synonyms

MMRRC Submission

038921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0740 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42736366-42836776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42806559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 149 (F149S)

Ref Sequence

ENSEMBL: ENSMUSP00000118910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063063] [ENSMUST00000105494] [ENSMUST00000105495] [ENSMUST00000125576] [ENSMUST00000157071]

AlphaFold

Q80VG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000063063
AA Change: F149S

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

SMART Domains

Protein: ENSMUSP00000053157
Gene: ENSMUSG00000044770
AA Change: F149S

Domain	Start	End	E-Value	Type
AT_hook	8	20	7.58e-1	SMART
Pfam:DUF3588	95	205	9.5e-35	PFAM
low complexity region	288	306	N/A	INTRINSIC
SAM	337	406	1.65e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105494
AA Change: F91S

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

SMART Domains

Protein: ENSMUSP00000101133
Gene: ENSMUSG00000044770
AA Change: F91S

Domain	Start	End	E-Value	Type
Pfam:DUF3588	34	150	1e-42	PFAM
low complexity region	230	248	N/A	INTRINSIC
SAM	279	348	1.65e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105495
AA Change: F149S

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

SMART Domains

Protein: ENSMUSP00000101134
Gene: ENSMUSG00000044770
AA Change: F149S

Domain	Start	End	E-Value	Type
AT_hook	8	20	7.58e-1	SMART
Pfam:DUF3588	92	172	1.9e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125576
AA Change: F149S

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

SMART Domains

Protein: ENSMUSP00000118910
Gene: ENSMUSG00000044770
AA Change: F149S

Domain	Start	End	E-Value	Type
AT_hook	8	20	7.58e-1	SMART
Pfam:DUF3588	92	208	3.6e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153091

Predicted Effect

probably benign
Transcript: ENSMUST00000157071

SMART Domains

Protein: ENSMUSP00000122585
Gene: ENSMUSG00000044770

Domain	Start	End	E-Value	Type
Pfam:DUF3588	41	95	7.7e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.2%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc3	G	T	11: 101,223,158 (GRCm39)	V465L	probably benign	Het
C2cd5	T	A	6: 142,981,989 (GRCm39)	N625I	probably damaging	Het
Ccdc60	T	A	5: 116,328,135 (GRCm39)	R110W	probably damaging	Het
Cfap43	A	G	19: 47,824,243 (GRCm39)	F43L	possibly damaging	Het
Crabp2	A	G	3: 87,859,443 (GRCm39)	K31R	probably benign	Het
Get1	G	C	16: 95,946,798 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nlrp3	T	C	11: 59,439,082 (GRCm39)	F220L	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Rragc	A	G	4: 123,818,556 (GRCm39)	K257R	probably damaging	Het
Tdrd1	A	G	19: 56,827,531 (GRCm39)	K178R	probably damaging	Het
Trappc11	A	T	8: 47,977,623 (GRCm39)	V224D	probably damaging	Het
Zfp964	G	T	8: 70,115,828 (GRCm39)	D143Y	probably damaging	Het

Other mutations in Scml4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01754:Scml4	APN	10	42,833,746 (GRCm39)	utr 3 prime	probably benign
IGL01814:Scml4	APN	10	42,811,041 (GRCm39)	missense	probably damaging	1.00
R0105:Scml4	UTSW	10	42,806,595 (GRCm39)	missense	probably damaging	1.00
R1885:Scml4	UTSW	10	42,788,223 (GRCm39)	missense	probably damaging	1.00
R1886:Scml4	UTSW	10	42,788,223 (GRCm39)	missense	probably damaging	1.00
R1887:Scml4	UTSW	10	42,788,223 (GRCm39)	missense	probably damaging	1.00
R1959:Scml4	UTSW	10	42,832,017 (GRCm39)	missense	probably damaging	1.00
R3410:Scml4	UTSW	10	42,833,667 (GRCm39)	missense	probably damaging	1.00
R3622:Scml4	UTSW	10	42,806,607 (GRCm39)	unclassified	probably benign
R4774:Scml4	UTSW	10	42,833,743 (GRCm39)	utr 3 prime	probably benign
R5703:Scml4	UTSW	10	42,741,566 (GRCm39)	intron	probably benign
R6577:Scml4	UTSW	10	42,823,107 (GRCm39)	missense	probably damaging	1.00
R6722:Scml4	UTSW	10	42,736,728 (GRCm39)	intron	probably benign
R8084:Scml4	UTSW	10	42,806,602 (GRCm39)	critical splice donor site	probably null
R8252:Scml4	UTSW	10	42,800,100 (GRCm39)	missense	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CTTACACGGTGAGGATCAGTCACG -3'
(R):5'- CCTGGAGCCCAGCAGGTAAATAAAC -3'

Sequencing Primer
(F):5'- GTGCAATGCATCTCACATCTGG -3'
(R):5'- GCAGGTAAATAAACAAACCCTGG -3'

Posted On

2013-09-30