Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Setd7'

433854

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

043033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51515319-51560879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51521465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 315 (P315S)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

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

AlphaFold

Q8VHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000037141
AA Change: P315S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: P315S

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: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,513,429	N506S	probably benign	Het
BC067074	A	G	13: 113,319,169	D583G	probably benign	Het
Brinp3	A	T	1: 146,901,459	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,638,446	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,155,471	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,098,048	T76K	probably benign	Het
Col16a1	T	C	4: 130,092,771		probably benign	Het
Cxcr4	C	A	1: 128,589,625	A100S	probably damaging	Het
Fancl	G	T	11: 26,469,677	C305F	probably damaging	Het
Gcnt2	T	C	13: 40,953,579	V308A	probably benign	Het
Gm11733	A	T	11: 117,484,496	I24L	unknown	Het
Gm765	A	T	6: 98,238,276	C129S	probably damaging	Het
Gm973	A	G	1: 59,628,287		probably null	Het
Gm996	T	C	2: 25,579,702	T66A	probably benign	Het
Heatr5b	A	T	17: 78,801,660	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,567,272		probably null	Het
Ighv1-20	A	T	12: 114,723,851	V91E	probably damaging	Het
Inhba	A	G	13: 16,026,786	E311G	probably damaging	Het
Irx3	G	T	8: 91,799,480		probably null	Het
Jag1	C	A	2: 137,084,995	C948F	probably damaging	Het
Kcna2	T	C	3: 107,105,309	I402T	possibly damaging	Het
Kcnh8	A	T	17: 52,977,816	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,945,858		probably null	Het
Macf1	T	C	4: 123,450,061	T2123A	probably benign	Het
Mdh1	A	T	11: 21,559,786	N196K	probably benign	Het
Msh6	G	A	17: 87,984,561	R248Q	possibly damaging	Het
Odf2l	G	T	3: 145,146,866	R457L	probably benign	Het
Olfr822	A	T	10: 130,075,029	L206F	probably damaging	Het
Pphln1	T	C	15: 93,488,975	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,240,112	T267I	probably damaging	Het
Pramef20	T	C	4: 144,377,157	D133G	probably benign	Het
Prpf8	A	C	11: 75,503,643	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,626,706		probably null	Het
Rasal3	C	A	17: 32,396,669	L374F	probably damaging	Het
S1pr3	T	A	13: 51,419,647	V288D	probably damaging	Het
Slx4	C	T	16: 3,991,540	A364T	probably benign	Het
Sp7	G	A	15: 102,359,314	T19I	probably benign	Het
Tlr9	T	A	9: 106,224,313	C268S	probably damaging	Het
Tmem117	T	A	15: 95,094,513	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,428,044	D211V	possibly damaging	Het
Tns3	A	G	11: 8,451,092	S1069P	probably benign	Het
Tsnax	A	G	8: 125,015,762	I77V	probably benign	Het
Txndc5	G	A	13: 38,513,125	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,777,241	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,487,944		probably null	Het
Vwde	A	T	6: 13,193,118	D407E	probably benign	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Zfp109	A	T	7: 24,228,621	C462*	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
R4231:Setd7	UTSW	3	51542730	missense	probably benign	0.24
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
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

Posted On

2016-10-06