Mutagenetix > Incidental Mutation

Incidental Mutation 'R3622:Scml4'

268678

Institutional Source

Beutler Lab

Gene Symbol

Scml4

Ensembl Gene

ENSMUSG00000044770

Gene Name

Scm polycomb group protein like 4

Synonyms

MMRRC Submission

040677-MU

Accession Numbers

Essential gene?

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

Stock #

R3622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42736366-42836776 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 42806607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122585 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000125576

SMART Domains

Protein: ENSMUSP00000118910
Gene: ENSMUSG00000044770

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,950,036 (GRCm39)	Y503*	probably null	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dpf1	G	A	7: 29,015,631 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,759,925 (GRCm39)		probably null	Het
Grid2ip	T	C	5: 143,371,774 (GRCm39)	S666P	probably damaging	Het
Gucy2e	T	A	11: 69,115,877 (GRCm39)	E835V	probably damaging	Het
Hdac5	G	A	11: 102,086,644 (GRCm39)	P120S	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mga	A	G	2: 119,772,245 (GRCm39)	T1702A	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Muc5b	T	C	7: 141,405,595 (GRCm39)		probably benign	Het
Oma1	T	C	4: 103,223,288 (GRCm39)	I491T	probably benign	Het
Or1e30	A	G	11: 73,678,567 (GRCm39)	T268A	probably benign	Het
Or5ak24	C	T	2: 85,260,837 (GRCm39)	C112Y	probably benign	Het
Or5b107	T	A	19: 13,143,020 (GRCm39)	M214K	probably benign	Het
Or8b48	A	G	9: 38,492,792 (GRCm39)	Y73C	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Plin4	G	T	17: 56,411,112 (GRCm39)	T973K	possibly damaging	Het
R3hdm4	C	T	10: 79,748,515 (GRCm39)	R143H	possibly damaging	Het
Rps18	G	C	17: 34,171,247 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,374,032 (GRCm39)	C1076*	probably null	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Slc6a5	T	C	7: 49,567,371 (GRCm39)	V275A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Srsf9	C	T	5: 115,468,571 (GRCm39)	A69V	probably damaging	Het
Stfa2	A	G	16: 36,224,433 (GRCm39)	Y90H	probably damaging	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Tnrc6c	C	T	11: 117,640,451 (GRCm39)	R1414C	probably damaging	Het
Tyk2	A	T	9: 21,038,606 (GRCm39)	C8S	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Utp20	A	G	10: 88,593,855 (GRCm39)		probably benign	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r116	A	G	17: 23,605,025 (GRCm39)	S113G	probably benign	Het
Vps53	A	C	11: 76,008,609 (GRCm39)	V237G	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
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'- TGCCCACAGTATGCCTCTAC -3'
(R):5'- CATCTACTATGGTCGGGGTGAG -3'

Sequencing Primer
(F):5'- TCTACATAAACAAACAGGCCGATGTG -3'
(R):5'- GTGAGTTGTGAATATGTCTGAAGAC -3'

Posted On

2015-02-19