Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Setd7'

210812

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

039894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51515319-51560879 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51542831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 58 (T58N)

Ref Sequence

ENSEMBL: ENSMUSP00000043492 (fasta)

Gene Model

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

AlphaFold

Q8VHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000037141
AA Change: T58N

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: T58N

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

0.0899

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,556,844	C133Y	unknown	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	A	G	8: 79,690,251	M377T	possibly damaging	Het
Adam25	A	T	8: 40,755,226	R510*	probably null	Het
Adamts12	G	T	15: 11,217,880	E308*	probably null	Het
Adgrg3	C	A	8: 95,033,442	N96K	possibly damaging	Het
Afdn	T	C	17: 13,881,316	V1022A	probably damaging	Het
Akap9	T	C	5: 4,001,406	V1391A	probably damaging	Het
Akip1	A	G	7: 109,711,775	Y174C	probably damaging	Het
Ap3b2	T	C	7: 81,464,150	T830A	unknown	Het
Aph1a	A	G	3: 95,895,564	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,301,290	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,855,822	L242P	probably damaging	Het
Cep97	T	A	16: 55,927,866	N67I	probably damaging	Het
Chic2	A	T	5: 75,011,479	W121R	possibly damaging	Het
Clock	A	G	5: 76,248,462	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,089,210	S178A	probably benign	Het
Col11a2	C	A	17: 34,062,555		probably benign	Het
Col6a3	T	A	1: 90,830,214	H6L	probably damaging	Het
Cpne5	T	C	17: 29,204,693	N154D	probably benign	Het
Ctsz	T	G	2: 174,427,976	K273Q	probably benign	Het
Cybrd1	G	A	2: 71,129,760	V101M	probably benign	Het
Cyp2c23	T	A	19: 44,005,551	K459*	probably null	Het
Cyp4a31	A	T	4: 115,574,736	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,641,974	V35M	probably damaging	Het
Dnah9	C	T	11: 66,037,490	V2118M	probably benign	Het
Doxl2	A	G	6: 48,975,620	I160V	probably benign	Het
Dtna	T	C	18: 23,597,560		probably null	Het
Ednra	C	T	8: 77,720,396	V18I	possibly damaging	Het
Elac1	T	C	18: 73,742,646	R105G	probably benign	Het
Exoc2	A	G	13: 30,822,661	S844P	probably benign	Het
Fam185a	A	T	5: 21,480,330		probably null	Het
Fam204a	A	G	19: 60,199,449	M233T	possibly damaging	Het
Fat1	C	A	8: 44,953,304	H1031N	probably benign	Het
Fat1	T	A	8: 45,038,349	Y3816N	probably damaging	Het
Fbxo38	C	T	18: 62,517,023	R621Q	probably benign	Het
Fhod3	C	A	18: 25,130,610	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,487,735	R192W	probably damaging	Het
Frem3	T	A	8: 80,612,576	H499Q	probably damaging	Het
Gab2	C	T	7: 97,299,043	T280I	probably damaging	Het
Gdpgp1	A	G	7: 80,238,424	R68G	probably benign	Het
Gm10382	C	T	5: 125,389,560		probably benign	Het
Gm4858	T	A	3: 93,074,422	L249H	probably damaging	Het
Gmps	A	G	3: 64,001,517	H480R	probably benign	Het
Hecw1	G	A	13: 14,280,449	R674*	probably null	Het
Herc2	T	A	7: 56,157,509	F2478L	probably benign	Het
Homer2	C	T	7: 81,636,402	V21M	probably damaging	Het
Ifna9	A	G	4: 88,592,255	M44T	probably damaging	Het
Igfl3	A	G	7: 18,179,896	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048	M270T	probably benign	Het
Kdm5b	T	C	1: 134,624,994	L1236P	probably damaging	Het
Kif14	T	A	1: 136,486,358	L724Q	probably damaging	Het
Lhb	T	C	7: 45,421,333	V45A	probably damaging	Het
Lhpp	A	G	7: 132,634,087	N134D	probably benign	Het
Mas1	T	C	17: 12,842,191	Y115C	probably damaging	Het
Mb21d1	T	C	9: 78,433,202	D416G	probably benign	Het
Mgam	A	T	6: 40,661,300	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,325,381		probably null	Het
Mrgprg	G	A	7: 143,764,544	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,056,980	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,372,452	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771	Y120C	probably damaging	Het
N4bp2	C	T	5: 65,794,518		probably benign	Het
Nbea	A	G	3: 55,642,889	V2706A	probably benign	Het
Nfic	T	A	10: 81,420,684	M71L	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1112	A	G	2: 87,191,878	T64A	possibly damaging	Het
Olfr115	G	T	17: 37,609,912	P280T	probably damaging	Het
Olfr1202	T	A	2: 88,817,936	V255E	probably benign	Het
Olfr1234	A	G	2: 89,362,589	L280P	probably damaging	Het
Pak7	T	C	2: 136,085,588	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,306,319	N121S	probably damaging	Het
Plce1	A	T	19: 38,760,077	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,630,951	L113P	probably damaging	Het
Ptprq	T	A	10: 107,643,999	T1137S	probably benign	Het
Recql5	T	C	11: 115,923,309	I223V	probably benign	Het
Reg3g	A	T	6: 78,467,853	Y47*	probably null	Het
Rgs12	T	G	5: 34,965,821	M316R	probably damaging	Het
Ric1	T	C	19: 29,602,668	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,182,923	C72R	probably damaging	Het
Rplp0	T	A	5: 115,563,315	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,087,393	V89I	probably benign	Het
Ryr3	A	G	2: 112,709,137	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,408,944	N92Y	probably benign	Het
Sh3tc2	T	A	18: 62,011,883	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,158,505	Q291*	probably null	Het
Soga1	A	G	2: 157,040,261	C624R	possibly damaging	Het
Sort1	A	G	3: 108,340,695	N452S	probably benign	Het
Sympk	A	G	7: 19,029,145	I46V	probably benign	Het
Syngr2	T	C	11: 117,812,538	V60A	probably damaging	Het
Syt17	A	T	7: 118,408,118	F318I	probably benign	Het
Tgfb1	T	A	7: 25,692,466	L149M	probably damaging	Het
Ticam1	A	T	17: 56,271,897	M66K	probably benign	Het
Tmem131	G	T	1: 36,807,927	D1363E	probably benign	Het
Tns4	A	C	11: 99,080,100	D261E	probably damaging	Het
Trim30a	T	C	7: 104,429,210	N220D	probably benign	Het
Trmt10a	T	C	3: 138,156,720	L257P	probably damaging	Het
Troap	G	T	15: 99,075,352		probably benign	Het
Ttc6	T	C	12: 57,704,552		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,324,750	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,287,411	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,628	V46A	probably benign	Het
Wdr59	A	T	8: 111,459,017	W835R	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp7	T	G	15: 76,891,777	I673S	probably benign	Het
Zmynd11	A	G	13: 9,698,701	I108T	possibly damaging	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
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
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'- ACTCCGTGTCGATTGTTGTC -3'
(R):5'- TTGAAACAGAGCTGAGCCTGTG -3'

Sequencing Primer
(F):5'- CTTTGTACTGTCCCTTGAAGATCAG -3'
(R):5'- AGCCTGACAACCTGAGTTTG -3'

Posted On

2014-06-30