Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Setd7'

36398

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

038572-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51422740-51468300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51457741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 29 (T29A)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

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

AlphaFold

Q8VHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000037141
AA Change: T29A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: T29A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194828

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	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
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
R6966:Setd7	UTSW	3	51,437,605 (GRCm39)	missense	probably damaging	1.00
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'- GCATATACGATGGGGTTGCTCTCAC -3'
(R):5'- GTATGGACCAGCCAGTTCACGAAG -3'

Sequencing Primer
(F):5'- GCATGAGTTACACACAAGCTTTC -3'
(R):5'- tcagcagctaggggcac -3'

Posted On

2013-05-09