Mutagenetix > Incidental Mutation

Incidental Mutation 'R6966:Setd7'

541985

Institutional Source

Beutler Lab

Gene Symbol

Setd7

Ensembl Gene

ENSMUSG00000037111

Gene Name

SET domain containing (lysine methyltransferase) 7

Synonyms

Set7/9, Set7, 1600028F23Rik, KMT7

MMRRC Submission

045076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51422740-51468300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51437605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 217 (Y217H)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

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

AlphaFold

Q8VHL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000037141
AA Change: Y217H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: Y217H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,974,472 (GRCm39)	R177C	possibly damaging	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Bahcc1	G	A	11: 120,173,985 (GRCm39)	V1582M	probably damaging	Het
Baiap2	A	T	11: 119,897,231 (GRCm39)	R529*	probably null	Het
Bcl9l	C	T	9: 44,420,685 (GRCm39)	Q1327*	probably null	Het
Brsk2	T	A	7: 141,538,270 (GRCm39)	C139S	possibly damaging	Het
Catsper3	T	A	13: 55,946,672 (GRCm39)	I123N	probably damaging	Het
Cd84	A	G	1: 171,713,976 (GRCm39)	N325D	possibly damaging	Het
Chid1	T	A	7: 141,076,297 (GRCm39)	Y357F	possibly damaging	Het
Clstn2	A	T	9: 97,408,459 (GRCm39)	Y416*	probably null	Het
Cnot1	A	T	8: 96,451,160 (GRCm39)	L2189Q	probably damaging	Het
Csnk2b	T	A	17: 35,336,758 (GRCm39)	I170L	probably benign	Het
Dnah3	T	C	7: 119,631,977 (GRCm39)	Q1326R	probably damaging	Het
Drd1	T	C	13: 54,207,564 (GRCm39)	I210V	probably damaging	Het
Eef1d	G	T	15: 75,775,558 (GRCm39)	Q34K	probably benign	Het
Fam184a	T	C	10: 53,531,095 (GRCm39)	T760A	probably benign	Het
Fnip1	G	T	11: 54,373,385 (GRCm39)	V199F	probably benign	Het
Glyatl3	T	C	17: 41,215,829 (GRCm39)	K226E	probably damaging	Het
Gm19410	C	T	8: 36,285,127 (GRCm39)	T2093I	possibly damaging	Het
Herc1	A	T	9: 66,318,347 (GRCm39)	E1206D	probably benign	Het
Hs6st1	G	A	1: 36,143,299 (GRCm39)	W411*	probably null	Het
Hsf2	C	A	10: 57,372,080 (GRCm39)	S60R	probably damaging	Het
Hyal5	C	A	6: 24,891,291 (GRCm39)	N368K	probably damaging	Het
Itgb2l	A	T	16: 96,231,843 (GRCm39)	F308I	probably benign	Het
Kdm7a	G	A	6: 39,129,773 (GRCm39)	L468F	probably damaging	Het
Lamp3	A	T	16: 19,518,403 (GRCm39)	L278*	probably null	Het
Ly6c1	A	T	15: 74,917,289 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,606,458 (GRCm39)	N524D	probably damaging	Het
Met	T	G	6: 17,531,531 (GRCm39)	L603R	possibly damaging	Het
Mical1	A	T	10: 41,355,750 (GRCm39)	Q198L	probably damaging	Het
Nacad	T	A	11: 6,552,634 (GRCm39)	I186F	possibly damaging	Het
Nt5c3b	A	T	11: 100,320,750 (GRCm39)	M257K	probably benign	Het
Nuak2	T	C	1: 132,252,770 (GRCm39)	M108T	possibly damaging	Het
Nub1	T	A	5: 24,894,470 (GRCm39)	Y51N	probably damaging	Het
Nxpe5	T	C	5: 138,237,679 (GRCm39)	S68P	probably damaging	Het
Or10ag58	C	T	2: 87,265,623 (GRCm39)	T264I	probably damaging	Het
Or5d44	A	G	2: 88,141,835 (GRCm39)	S102P	probably benign	Het
Or6c66	A	G	10: 129,461,633 (GRCm39)	V99A	probably benign	Het
Pias3	A	G	3: 96,609,511 (GRCm39)	D276G	probably damaging	Het
Slc23a1	A	T	18: 35,758,114 (GRCm39)	I142N	probably damaging	Het
Slx4ip	T	C	2: 136,910,144 (GRCm39)	S310P	probably damaging	Het
Tcp11l2	G	A	10: 84,427,133 (GRCm39)	R199Q	possibly damaging	Het
Tgm4	T	A	9: 122,880,207 (GRCm39)	D226E	possibly damaging	Het
Tspyl4	C	A	10: 34,173,673 (GRCm39)	A55E	probably benign	Het
Uap1l1	A	G	2: 25,254,950 (GRCm39)	I146T	probably damaging	Het
Ush2a	G	A	1: 188,308,441 (GRCm39)	G2030D	probably damaging	Het
Uts2r	G	A	11: 121,052,213 (GRCm39)	G359D	possibly damaging	Het
Vwa7	T	C	17: 35,236,072 (GRCm39)	S9P	probably benign	Het
Zbtb16	A	G	9: 48,568,654 (GRCm39)	C604R	probably damaging	Het
Zfp804b	A	G	5: 6,821,615 (GRCm39)	S483P	probably damaging	Het
Zfpm1	G	A	8: 123,058,904 (GRCm39)	A175T	probably damaging	Het

Other mutations in Setd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Setd7	APN	3	51,457,729 (GRCm39)	missense	probably benign	0.00
IGL00940:Setd7	APN	3	51,440,459 (GRCm39)	missense	probably damaging	1.00
IGL00943:Setd7	APN	3	51,440,459 (GRCm39)	missense	probably damaging	1.00
IGL00944:Setd7	APN	3	51,440,459 (GRCm39)	missense	probably damaging	1.00
IGL01466:Setd7	APN	3	51,428,730 (GRCm39)	makesense	probably null
IGL01810:Setd7	APN	3	51,440,388 (GRCm39)	splice site	probably benign
IGL01884:Setd7	APN	3	51,450,132 (GRCm39)	missense	possibly damaging	0.71
IGL02117:Setd7	APN	3	51,428,826 (GRCm39)	missense	probably damaging	1.00
IGL02806:Setd7	APN	3	51,457,688 (GRCm39)	missense	probably damaging	0.97
IGL03258:Setd7	APN	3	51,467,936 (GRCm39)	splice site	probably null
IGL03404:Setd7	APN	3	51,440,407 (GRCm39)	nonsense	probably null
R0366:Setd7	UTSW	3	51,457,741 (GRCm39)	missense	probably benign	0.07
R1328:Setd7	UTSW	3	51,450,240 (GRCm39)	missense	possibly damaging	0.95
R1819:Setd7	UTSW	3	51,450,060 (GRCm39)	missense	probably benign	0.38
R1872:Setd7	UTSW	3	51,450,252 (GRCm39)	missense	probably benign	0.29
R2406:Setd7	UTSW	3	51,450,097 (GRCm39)	missense	probably damaging	0.99
R2513:Setd7	UTSW	3	51,440,436 (GRCm39)	missense	probably damaging	1.00
R4231:Setd7	UTSW	3	51,450,151 (GRCm39)	missense	probably benign	0.24
R4627:Setd7	UTSW	3	51,450,086 (GRCm39)	missense	probably damaging	0.99
R4687:Setd7	UTSW	3	51,457,776 (GRCm39)	missense	probably damaging	1.00
R4770:Setd7	UTSW	3	51,428,843 (GRCm39)	missense	probably damaging	1.00
R5212:Setd7	UTSW	3	51,450,238 (GRCm39)	missense	probably damaging	1.00
R5472:Setd7	UTSW	3	51,428,886 (GRCm39)	missense	probably benign	0.00
R6127:Setd7	UTSW	3	51,437,502 (GRCm39)	missense	probably damaging	1.00
R6647:Setd7	UTSW	3	51,450,183 (GRCm39)	missense	probably benign	0.00
R7744:Setd7	UTSW	3	51,434,261 (GRCm39)	splice site	probably null
R7828:Setd7	UTSW	3	51,444,078 (GRCm39)	critical splice acceptor site	probably null
R7896:Setd7	UTSW	3	51,444,077 (GRCm39)	critical splice acceptor site	probably null
R8203:Setd7	UTSW	3	51,437,519 (GRCm39)	nonsense	probably null
R8283:Setd7	UTSW	3	51,428,796 (GRCm39)	missense	probably benign	0.11
R9489:Setd7	UTSW	3	51,450,139 (GRCm39)	nonsense	probably null
R9683:Setd7	UTSW	3	51,450,111 (GRCm39)	missense	possibly damaging	0.92
X0022:Setd7	UTSW	3	51,450,073 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- ATGACCATGAAAGTGGCTTGC -3'
(R):5'- AGAGTTCAGTTTGAATACAGCGC -3'

Sequencing Primer
(F):5'- CCATGAAAGTGGCTTGCTTAAGC -3'
(R):5'- CAGTTTGAATACAGCGCTTGCAG -3'

Posted On

2018-11-28