Mutagenetix > Incidental Mutation

Incidental Mutation 'R9683:Setd7'

728672

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9683 (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 T at 51450111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 105 (I105N)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

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

AlphaFold

Q8VHL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037141
AA Change: I105N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: I105N

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: 99.7%
20x: 99.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,200,095 (GRCm39)	G499D	probably benign	Het
Acr	T	A	15: 89,457,440 (GRCm39)	Y229*	probably null	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Ahnak	T	C	19: 8,984,719 (GRCm39)	V2001A	possibly damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Anln	A	T	9: 22,283,536 (GRCm39)	C432*	probably null	Het
Aox4	T	C	1: 58,278,462 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,491,619 (GRCm39)	I1007V	possibly damaging	Het
Bicral	T	C	17: 47,122,944 (GRCm39)	D649G	possibly damaging	Het
C1qbp	G	A	11: 70,873,749 (GRCm39)	R10C	probably damaging	Het
Cass4	C	T	2: 172,268,656 (GRCm39)	P246L	probably damaging	Het
Celsr3	T	A	9: 108,704,522 (GRCm39)	V335E	probably damaging	Het
Cfap52	T	A	11: 67,822,639 (GRCm39)	T411S	probably benign	Het
Cnot6	A	T	11: 49,580,164 (GRCm39)	L43I	possibly damaging	Het
Col9a3	G	A	2: 180,248,322 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,426,509 (GRCm39)	R210G	probably benign	Het
Fat4	A	G	3: 38,943,332 (GRCm39)	S742G	possibly damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Glrx2	A	G	1: 143,622,292 (GRCm39)	D96G	probably damaging	Het
Gm8369	T	C	19: 11,489,097 (GRCm39)	L128P	probably damaging	Het
Gpr155	A	G	2: 73,192,780 (GRCm39)	I585T	probably benign	Het
Heatr1	T	C	13: 12,449,140 (GRCm39)	S1907P	probably damaging	Het
Hscb	T	C	5: 110,983,881 (GRCm39)	T129A	possibly damaging	Het
Itgb5	T	A	16: 33,740,335 (GRCm39)	Y482N	probably damaging	Het
Kmt5b	T	A	19: 3,865,587 (GRCm39)	*884R	probably null	Het
L3mbtl1	A	T	2: 162,812,228 (GRCm39)	T758S	possibly damaging	Het
Mindy1	A	T	3: 95,202,176 (GRCm39)	H351L	probably benign	Het
Mmel1	A	T	4: 154,977,285 (GRCm39)	I552F	probably damaging	Het
Mos	T	C	4: 3,871,186 (GRCm39)	D210G	probably benign	Het
Npl	A	C	1: 153,421,030 (GRCm39)	I16S	possibly damaging	Het
Nutm2	C	A	13: 50,629,017 (GRCm39)	P694T	possibly damaging	Het
Or1e1c	G	A	11: 73,265,811 (GRCm39)	V82I	probably damaging	Het
Or52ae7	A	G	7: 103,119,157 (GRCm39)		probably benign	Het
Plekhg4	T	C	8: 106,102,923 (GRCm39)	F261L	probably benign	Het
Ppfia3	T	A	7: 45,005,999 (GRCm39)	N331I	probably benign	Het
Ppp1r12a	T	A	10: 108,096,747 (GRCm39)	S712R	possibly damaging	Het
Psg20	T	A	7: 18,416,508 (GRCm39)	K203*	probably null	Het
Recql	C	T	6: 142,305,646 (GRCm39)	R234Q		Het
Rerg	A	G	6: 137,033,252 (GRCm39)	F160S	probably damaging	Het
Rp1l1	A	G	14: 64,269,126 (GRCm39)	K1571E	probably damaging	Het
Rsrc1	T	A	3: 67,257,328 (GRCm39)	S247T	probably damaging	Het
Sacs	T	A	14: 61,450,881 (GRCm39)	I4309N	possibly damaging	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,921,236 (GRCm39)	H645L	probably damaging	Het
Slain1	A	T	14: 103,925,621 (GRCm39)	D323V	probably damaging	Het
Slc25a10	A	G	11: 120,386,312 (GRCm39)	N139D	probably damaging	Het
Slc9a9	T	G	9: 94,552,235 (GRCm39)	F41V	probably damaging	Het
Spag9	A	C	11: 93,988,568 (GRCm39)	E879D	probably damaging	Het
Tdrd7	T	A	4: 46,025,946 (GRCm39)	L922Q	probably damaging	Het
Tiprl	A	G	1: 165,050,147 (GRCm39)	F156S	probably damaging	Het
Tmem185b	G	C	1: 119,454,748 (GRCm39)	V170L	probably damaging	Het
Top2a	G	A	11: 98,887,683 (GRCm39)	T1275I	probably benign	Het
Tpp1	A	G	7: 105,398,104 (GRCm39)	L353P	probably damaging	Het
Twnk	T	A	19: 44,998,622 (GRCm39)	H513Q	probably damaging	Het
Ubr5	C	T	15: 37,978,271 (GRCm39)	V2467I		Het
Vmn2r16	T	A	5: 109,511,677 (GRCm39)	I628N	probably damaging	Het
Zan	T	C	5: 137,462,776 (GRCm39)	E801G	unknown	Het
Zfp810	T	C	9: 22,189,799 (GRCm39)	R370G	possibly damaging	Het
Zfp955a	A	G	17: 33,461,587 (GRCm39)	S182P	probably benign	Het
Znrf3	T	C	11: 5,394,465 (GRCm39)	T72A	possibly 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
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
X0022:Setd7	UTSW	3	51,450,073 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GTCCTAGTGAACAACAGCAGGTAG -3'
(R):5'- ACCCGTTCATCAGACTGTCC -3'

Sequencing Primer
(F):5'- GAAACGCTCGCCTTTAGCAG -3'
(R):5'- CGTTCATCAGACTGTCCTTTCTG -3'

Posted On

2022-10-06