Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Setd4'

567847

Institutional Source

Beutler Lab

Gene Symbol

Setd4

Ensembl Gene

ENSMUSG00000022948

Gene Name

SET domain containing 4

Synonyms

ORF21

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93380345-93400951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93384711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 326 (T326A)

Ref Sequence

ENSEMBL: ENSMUSP00000023669 (fasta)

Gene Model

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

AlphaFold

P58467

Predicted Effect

probably benign
Transcript: ENSMUST00000023669
AA Change: T326A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023669
Gene: ENSMUSG00000022948
AA Change: T326A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	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
R6667:Setd4	UTSW	16	93,386,918 (GRCm39)	missense	probably benign	0.16
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
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'- AGGACTGTTTCAAGCTTGACTCTC -3'
(R):5'- AGCGAGCTGTCCTAAAGAGG -3'

Sequencing Primer
(F):5'- TCACCCCTTGAGTGCCTAGG -3'
(R):5'- GAACTGGCAGACACTCTGGTTATC -3'

Posted On

2019-06-26