Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Setd7'

320829

Institutional Source

Beutler Lab

Gene Symbol

Setd7

Ensembl Gene

ENSMUSG00000037111

Gene Name

SET domain containing (lysine methyltransferase) 7

Synonyms

KMT7, Set7, 1600028F23Rik, Set7/9

MMRRC Submission

041050-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51515319-51560879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51542730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 92 (N92D)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037141]

AlphaFold

Q8VHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000037141
AA Change: N92D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: N92D

Domain	Start	End	E-Value	Type
Pfam:MORN	13	35	9e-3	PFAM
Pfam:MORN	36	58	1.7e-6	PFAM
Pfam:MORN	60	81	1.6e-6	PFAM
Pfam:MORN	106	128	2.2e-6	PFAM
SET	214	342	2.35e-2	SMART

Meta Mutation Damage Score

0.0785

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

MGI Phenotype

PHENOTYPE: Homozygotes for a knock-out allele exhibit partial prenatal lethality and failure of mouse embryonic fibroblasts and spleen cells to arrest after doxorubicin treatment. Homozygotes for a different knock-out allele show resistance to bleomycin- or adenovirus-TGFbeta-induced pulmonary fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Setd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Setd7	APN	3	51550308	missense	probably benign	0.00
IGL00940:Setd7	APN	3	51533038	missense	probably damaging	1.00
IGL00943:Setd7	APN	3	51533038	missense	probably damaging	1.00
IGL00944:Setd7	APN	3	51533038	missense	probably damaging	1.00
IGL01466:Setd7	APN	3	51521309	makesense	probably null
IGL01810:Setd7	APN	3	51532967	splice site	probably benign
IGL01884:Setd7	APN	3	51542711	missense	possibly damaging	0.71
IGL02117:Setd7	APN	3	51521405	missense	probably damaging	1.00
IGL02806:Setd7	APN	3	51550267	missense	probably damaging	0.97
IGL03258:Setd7	APN	3	51560515	splice site	probably null
IGL03404:Setd7	APN	3	51532986	nonsense	probably null
R0366:Setd7	UTSW	3	51550320	missense	probably benign	0.07
R1328:Setd7	UTSW	3	51542819	missense	possibly damaging	0.95
R1819:Setd7	UTSW	3	51542639	missense	probably benign	0.38
R1872:Setd7	UTSW	3	51542831	missense	probably benign	0.29
R2406:Setd7	UTSW	3	51542676	missense	probably damaging	0.99
R2513:Setd7	UTSW	3	51533015	missense	probably damaging	1.00
R4627:Setd7	UTSW	3	51542665	missense	probably damaging	0.99
R4687:Setd7	UTSW	3	51550355	missense	probably damaging	1.00
R4770:Setd7	UTSW	3	51521422	missense	probably damaging	1.00
R5212:Setd7	UTSW	3	51542817	missense	probably damaging	1.00
R5472:Setd7	UTSW	3	51521465	missense	probably benign	0.00
R6127:Setd7	UTSW	3	51530081	missense	probably damaging	1.00
R6647:Setd7	UTSW	3	51542762	missense	probably benign	0.00
R6966:Setd7	UTSW	3	51530184	missense	probably damaging	1.00
R7744:Setd7	UTSW	3	51526840	splice site	probably null
R7828:Setd7	UTSW	3	51536657	critical splice acceptor site	probably null
R7896:Setd7	UTSW	3	51536656	critical splice acceptor site	probably null
R8203:Setd7	UTSW	3	51530098	nonsense	probably null
R8283:Setd7	UTSW	3	51521375	missense	probably benign	0.11
R9489:Setd7	UTSW	3	51542718	nonsense	probably null
R9683:Setd7	UTSW	3	51542690	missense	possibly damaging	0.92
X0022:Setd7	UTSW	3	51542652	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGTGAGGAGTCAGAACGCTG -3'
(R):5'- ACCTGCCGAATGTTTGCTGG -3'

Sequencing Primer
(F):5'- GAGTCAGAACGCTGTCTTAAAAC -3'
(R):5'- CAGAGGGGAGGTATGCATAGC -3'

Posted On

2015-06-12