Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Setd4'

527042

Institutional Source

Beutler Lab

Gene Symbol

Setd4

Ensembl Gene

ENSMUSG00000022948

Gene Name

SET domain containing 4

Synonyms

ORF21

MMRRC Submission

044787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93380345-93400951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93386918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 260 (R260L)

Ref Sequence

ENSEMBL: ENSMUSP00000023669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023669] [ENSMUST00000113951]

AlphaFold

P58467

Predicted Effect

probably benign
Transcript: ENSMUST00000023669
AA Change: R260L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023669
Gene: ENSMUSG00000022948
AA Change: R260L

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:SET	58	272	3.2e-11	PFAM
Pfam:Rubis-subs-bind	306	424	5.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113951
AA Change: R260L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109584
Gene: ENSMUSG00000022948
AA Change: R260L

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:SET	58	272	9.1e-14	PFAM
Pfam:Rubis-subs-bind	308	424	1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156298

Meta Mutation Damage Score

0.1816

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,504,435 (GRCm39)	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,369,913 (GRCm39)	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,440,811 (GRCm39)	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,484,749 (GRCm39)	S1496N	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Atp12a	T	C	14: 56,621,645 (GRCm39)	V760A	possibly damaging	Het
Casp2	T	C	6: 42,256,770 (GRCm39)	C343R	probably damaging	Het
Cblb	T	A	16: 51,973,007 (GRCm39)	M446K	possibly damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Ddit4l	A	G	3: 137,331,882 (GRCm39)	K83E	probably benign	Het
Eif1ad10	A	T	12: 88,216,475 (GRCm39)	D132E	unknown	Het
Epc2	A	G	2: 49,412,681 (GRCm39)	T220A	probably damaging	Het
Epha5	T	C	5: 84,219,050 (GRCm39)	D741G	probably damaging	Het
Flg2	A	T	3: 93,109,068 (GRCm39)	R365S	possibly damaging	Het
Ggn	A	T	7: 28,872,093 (GRCm39)	H491L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,370,152 (GRCm39)	V100A	probably benign	Het
Invs	A	T	4: 48,402,870 (GRCm39)	Y501F	possibly damaging	Het
Iqcm	G	T	8: 76,479,980 (GRCm39)	G313W	probably damaging	Het
Jph2	A	G	2: 163,218,206 (GRCm39)	S157P	probably damaging	Het
Mast4	T	C	13: 102,874,004 (GRCm39)	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,567,760 (GRCm39)	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,558,735 (GRCm39)	L837P	probably damaging	Het
Neb	G	A	2: 52,037,201 (GRCm39)	T6836I	probably damaging	Het
Nol12	T	A	15: 78,824,280 (GRCm39)	D133E	probably benign	Het
Or5w13	A	G	2: 87,523,914 (GRCm39)	V104A	probably benign	Het
Oxtr	C	A	6: 112,454,060 (GRCm39)		probably benign	Het
Pcmt1	A	G	10: 7,538,913 (GRCm39)	L38P	probably damaging	Het
Pik3r2	T	C	8: 71,221,817 (GRCm39)	Y617C	probably damaging	Het
Potefam3b	T	C	8: 21,161,955 (GRCm39)	S267P	probably benign	Het
Prl7a2	T	C	13: 27,845,024 (GRCm39)	N121D	probably benign	Het
Pvr	G	T	7: 19,639,727 (GRCm39)	Q380K	probably benign	Het
Rtn2	A	G	7: 19,021,184 (GRCm39)	E188G	probably benign	Het
Six5	A	G	7: 18,830,494 (GRCm39)	N374D	probably benign	Het
Slc9b1	T	C	3: 135,077,726 (GRCm39)	I140T	probably damaging	Het
Supt16	A	G	14: 52,409,520 (GRCm39)	F797L	probably damaging	Het
Tbata	T	C	10: 61,021,142 (GRCm39)	L262P	probably damaging	Het
Tti1	A	T	2: 157,850,347 (GRCm39)	C297*	probably null	Het
Ush1c	C	A	7: 45,875,048 (GRCm39)	G139C	probably damaging	Het
Vmn1r1	C	T	1: 181,985,342 (GRCm39)	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,620,066 (GRCm39)	T600I	probably damaging	Het
Zfp764l1	A	G	7: 126,992,595 (GRCm39)	M5T	probably benign	Het
Zfp873	A	G	10: 81,896,423 (GRCm39)	T422A	probably benign	Het
Zfp943	G	A	17: 22,211,889 (GRCm39)	C325Y	probably damaging	Het

Other mutations in Setd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Setd4	APN	16	93,388,127 (GRCm39)	missense	probably damaging	1.00
IGL02217:Setd4	APN	16	93,390,183 (GRCm39)	missense	probably damaging	1.00
R0370:Setd4	UTSW	16	93,388,006 (GRCm39)	missense	probably damaging	0.99
R0573:Setd4	UTSW	16	93,386,834 (GRCm39)	missense	probably benign
R1103:Setd4	UTSW	16	93,382,082 (GRCm39)	missense	probably benign	0.01
R1631:Setd4	UTSW	16	93,390,136 (GRCm39)	nonsense	probably null
R1826:Setd4	UTSW	16	93,388,187 (GRCm39)	nonsense	probably null
R2356:Setd4	UTSW	16	93,387,871 (GRCm39)	missense	probably damaging	1.00
R2360:Setd4	UTSW	16	93,383,122 (GRCm39)	splice site	probably benign
R4362:Setd4	UTSW	16	93,380,574 (GRCm39)	splice site	probably null
R4630:Setd4	UTSW	16	93,388,114 (GRCm39)	missense	probably benign	0.00
R4823:Setd4	UTSW	16	93,386,838 (GRCm39)	missense	probably benign	0.00
R5004:Setd4	UTSW	16	93,388,133 (GRCm39)	missense	probably benign	0.02
R5257:Setd4	UTSW	16	93,393,221 (GRCm39)	missense	probably damaging	0.98
R6798:Setd4	UTSW	16	93,386,841 (GRCm39)	missense	probably damaging	1.00
R7296:Setd4	UTSW	16	93,380,830 (GRCm39)	splice site	probably null
R7313:Setd4	UTSW	16	93,388,132 (GRCm39)	missense	probably benign	0.09
R7314:Setd4	UTSW	16	93,384,711 (GRCm39)	missense	probably benign	0.13
R8786:Setd4	UTSW	16	93,390,162 (GRCm39)	missense	probably benign	0.01
R8866:Setd4	UTSW	16	93,386,961 (GRCm39)	missense	probably damaging	0.97
R9153:Setd4	UTSW	16	93,384,722 (GRCm39)	missense	possibly damaging	0.96
R9363:Setd4	UTSW	16	93,388,009 (GRCm39)	missense	probably benign	0.08
R9627:Setd4	UTSW	16	93,380,562 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGGACAGCTCTTTCCATTAGAAC -3'
(R):5'- TCCATGACTGGAGTTCCTCC -3'

Sequencing Primer
(F):5'- CTTTCCATTAGAACGGGAAATAACC -3'
(R):5'- AAGTGCAGGAGTCGGATTCTC -3'

Posted On

2018-07-23