Mutagenetix > Incidental Mutation

Incidental Mutation 'R5703:Scml4'

451801

Institutional Source

Beutler Lab

Gene Symbol

Scml4

Ensembl Gene

ENSMUSG00000044770

Gene Name

Scm polycomb group protein like 4

Synonyms

MMRRC Submission

043183-MU

Accession Numbers

Essential gene?

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

Stock #

R5703 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42736366-42836776 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 42741566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122585 (fasta)

Gene Model

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

AlphaFold

Q80VG1

Predicted Effect

probably benign
Transcript: ENSMUST00000063063

SMART Domains

Protein: ENSMUSP00000053157
Gene: ENSMUSG00000044770

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 benign
Transcript: ENSMUST00000105494

SMART Domains

Protein: ENSMUSP00000101133
Gene: ENSMUSG00000044770

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 benign
Transcript: ENSMUST00000105495

SMART Domains

Protein: ENSMUSP00000101134
Gene: ENSMUSG00000044770

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136841

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217505

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,459,640 (GRCm39)	N605I	probably damaging	Het
Btd	C	T	14: 31,389,004 (GRCm39)	R242*	probably null	Het
Cdc42bpg	A	G	19: 6,372,703 (GRCm39)	D1502G	possibly damaging	Het
Chst2	A	G	9: 95,286,985 (GRCm39)	F454L	probably damaging	Het
Col16a1	G	A	4: 129,947,092 (GRCm39)	A146T	probably damaging	Het
Cyp3a11	A	T	5: 145,797,183 (GRCm39)	S399T	probably benign	Het
Dspp	C	T	5: 104,324,917 (GRCm39)	H427Y	possibly damaging	Het
Dtx4	A	T	19: 12,459,574 (GRCm39)	M410K	possibly damaging	Het
Ecpas	A	T	4: 58,877,171 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,317,665 (GRCm39)	R61W	probably damaging	Het
Gbp6	T	C	5: 105,421,147 (GRCm39)	K553E	probably benign	Het
Git1	CCG	C	11: 77,395,494 (GRCm39)		probably null	Het
Gm13199	C	T	2: 5,867,259 (GRCm39)		probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
Hoxa2	G	T	6: 52,140,243 (GRCm39)	Q248K	probably damaging	Het
Hycc1	A	T	5: 24,185,577 (GRCm39)		probably null	Het
Krt33b	T	C	11: 99,916,374 (GRCm39)	T228A	probably benign	Het
Loxhd1	A	G	18: 77,444,573 (GRCm39)	E324G	probably damaging	Het
Map3k20	A	G	2: 72,232,514 (GRCm39)	N390S	probably benign	Het
Mroh7	A	G	4: 106,565,757 (GRCm39)	Y126H	possibly damaging	Het
Muc4	G	A	16: 32,555,059 (GRCm39)	W15*	probably null	Het
Ndrg2	T	A	14: 52,147,579 (GRCm39)		probably null	Het
Ntsr1	T	C	2: 180,142,226 (GRCm39)	S6P	probably damaging	Het
Or5m10	T	C	2: 85,717,783 (GRCm39)	I213T	probably benign	Het
Or5p70	G	A	7: 107,994,707 (GRCm39)	V127I	probably benign	Het
Pcdhb6	A	T	18: 37,467,753 (GRCm39)	T225S	probably benign	Het
Rfng	C	A	11: 120,672,842 (GRCm39)	V294L	probably benign	Het
Slc5a2	A	G	7: 127,869,787 (GRCm39)	I407V	possibly damaging	Het
Strc	T	C	2: 121,201,295 (GRCm39)	T1267A	probably benign	Het
Tanc1	T	C	2: 59,626,341 (GRCm39)	V566A	probably damaging	Het
Tas1r2	T	C	4: 139,394,647 (GRCm39)	S468P	probably damaging	Het
Tenm2	T	A	11: 35,914,626 (GRCm39)	T2304S	probably benign	Het
Tirap	A	T	9: 35,100,054 (GRCm39)	L210Q	probably damaging	Het
Vav3	A	T	3: 109,248,557 (GRCm39)	Q68L	probably benign	Het
Vmn2r54	C	T	7: 12,363,594 (GRCm39)	S433N	probably benign	Het
Wars1	A	T	12: 108,841,047 (GRCm39)	Y244N	probably damaging	Het
Zc3h6	A	G	2: 128,835,372 (GRCm39)		probably benign	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
R0740:Scml4	UTSW	10	42,806,559 (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
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'- GTGTTTCCCTACTATCCAGAGC -3'
(R):5'- AAGAAGGCAGCCTCTTTCCAG -3'

Sequencing Primer
(F):5'- GTTTCCCTACTATCCAGAGCCACAC -3'
(R):5'- TGGTGACATAAGCCCTGAATTCCAG -3'

Posted On

2017-01-03