Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Sall3'

236428

Institutional Source

Beutler Lab

Gene Symbol

Sall3

Ensembl Gene

ENSMUSG00000024565

Gene Name

spalt like transcription factor 3

Synonyms

Msal, Spalt, Msal-1, Salt, B130022O04Rik

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

80966376-80986578 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80969831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1130 (M1130K)

Ref Sequence

ENSEMBL: ENSMUSP00000056967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057950]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057950
AA Change: M1130K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: M1130K

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
low complexity region	143	161	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	210	231	N/A	INTRINSIC
low complexity region	271	289	N/A	INTRINSIC
low complexity region	323	342	N/A	INTRINSIC
low complexity region	350	371	N/A	INTRINSIC
ZnF_C2H2	427	449	2.57e-3	SMART
ZnF_C2H2	455	477	3.21e-4	SMART
low complexity region	555	568	N/A	INTRINSIC
ZnF_C2H2	692	714	3.99e0	SMART
ZnF_C2H2	720	742	2.99e-4	SMART
ZnF_C2H2	752	774	1.6e-4	SMART
low complexity region	834	852	N/A	INTRINSIC
low complexity region	901	923	N/A	INTRINSIC
low complexity region	993	1007	N/A	INTRINSIC
ZnF_C2H2	1061	1083	1.69e-3	SMART
ZnF_C2H2	1089	1111	5.99e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality with an impaired suckling ability, truncated soft palate, small epiglottis, and abnormal cranial nerve morphology. [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
Aagab	T	A	9: 63,616,675		probably null	Het
Adgrb3	G	T	1: 25,068,209	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Angpt2	T	C	8: 18,714,140	T129A	probably benign	Het
Atp6v0a4	T	A	6: 38,082,936	K236*	probably null	Het
Baz1b	G	A	5: 135,217,275	R526H	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Btnl9	G	T	11: 49,170,626		probably null	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cdh8	C	A	8: 99,111,693	C505F	probably damaging	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Ces1c	T	A	8: 93,130,840	I38F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Col25a1	A	G	3: 130,570,316	H546R	probably damaging	Het
Crot	A	T	5: 8,987,780	Y179N	possibly damaging	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Ddb1	T	C	19: 10,619,126		probably null	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Elf2	A	G	3: 51,256,440	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fbn1	T	G	2: 125,412,708	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,505,865	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gdf2	A	G	14: 33,945,241	T307A	probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm266	C	T	12: 111,485,181	R197K	possibly damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gns	G	A	10: 121,392,778	R498H	probably damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Grk6	T	C	13: 55,454,364	W335R	probably damaging	Het
Helz2	T	C	2: 181,231,380	E2379G	probably benign	Het
Hmx2	A	T	7: 131,555,859	D234V	probably damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTTCT	1: 135,386,282		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Itpkc	A	G	7: 27,219,650	V397A	possibly damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kdr	T	C	5: 75,968,423	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,934,998	N338S	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Micall1	T	C	15: 79,130,795	Y751H	probably damaging	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myh2	A	G	11: 67,189,332	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nrbp1	A	G	5: 31,247,929	E287G	possibly damaging	Het
Nup188	T	A	2: 30,336,706	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1012	C	T	2: 85,759,677	R233H	probably benign	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1298	C	A	2: 111,645,221	V259L	probably benign	Het
Olfr1383	A	G	11: 49,523,839	I39V	probably benign	Het
Olfr642	C	T	7: 104,050,300	G18D	probably damaging	Het
Olfr786	A	G	10: 129,437,747	K312E	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Panx3	G	C	9: 37,666,673	S87W	probably damaging	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,422,123	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,559	G605V	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Pkhd1	T	A	1: 20,523,895	K1331N	probably benign	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,044		probably null	Het
Prb1	T	A	6: 132,207,203	Q489L	unknown	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psme4	A	G	11: 30,820,998	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,337,228		probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rit2	A	G	18: 31,153,713	F140L	probably benign	Het
Rorc	G	A	3: 94,389,526	R271Q	probably benign	Het
Sart3	T	C	5: 113,764,093	E141G	probably damaging	Het
Serpina9	T	C	12: 104,008,309	D195G	probably benign	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tarsl2	A	T	7: 65,658,897	I272L	probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,826,899	H294Y	probably benign	Het
Tigd4	A	G	3: 84,594,363	T196A	possibly damaging	Het
Treh	G	A	9: 44,681,141	M54I	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,812,048	D207G	probably damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,479,726	I4T	probably damaging	Het
Zfp638	T	A	6: 83,986,596	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,708,192	H333N	probably damaging	Het

Other mutations in Sall3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Sall3	APN	18	80973232	missense	probably damaging	0.98
IGL01630:Sall3	APN	18	80971269	missense	probably benign	0.03
IGL01713:Sall3	APN	18	80969847	missense	probably damaging	1.00
IGL01803:Sall3	APN	18	80969832	missense	possibly damaging	0.65
IGL02627:Sall3	APN	18	80972361	missense	possibly damaging	0.86
IGL02858:Sall3	APN	18	80969513	missense	probably damaging	1.00
IGL03177:Sall3	APN	18	80972968	missense	probably benign	0.00
fountain	UTSW	18	80974476	missense	probably damaging	0.99
IGL02984:Sall3	UTSW	18	80973450	missense	probably benign	0.01
R1055:Sall3	UTSW	18	80969792	missense	probably benign	0.24
R1258:Sall3	UTSW	18	80974065	missense	probably damaging	1.00
R1932:Sall3	UTSW	18	80969753	missense	probably benign	0.44
R1976:Sall3	UTSW	18	80971893	missense	probably benign	0.42
R2124:Sall3	UTSW	18	80971797	missense	probably benign	0.01
R2199:Sall3	UTSW	18	80971870	missense	probably benign	0.27
R2365:Sall3	UTSW	18	80971792	missense	probably benign	0.01
R3856:Sall3	UTSW	18	80972502	missense	probably damaging	1.00
R4022:Sall3	UTSW	18	80969840	missense	probably benign	0.05
R4050:Sall3	UTSW	18	80971482	missense	probably benign	0.03
R4085:Sall3	UTSW	18	80972133	missense	probably damaging	0.99
R4764:Sall3	UTSW	18	80974476	missense	probably damaging	0.99
R4874:Sall3	UTSW	18	80973973	missense	probably benign	0.33
R4948:Sall3	UTSW	18	80971411	missense	probably benign	0.20
R5274:Sall3	UTSW	18	80969837	missense	probably benign	0.15
R5602:Sall3	UTSW	18	80972812	missense	probably benign
R6063:Sall3	UTSW	18	80974255	missense	possibly damaging	0.52
R6256:Sall3	UTSW	18	80969861	missense	possibly damaging	0.74
R6431:Sall3	UTSW	18	80973187	missense	possibly damaging	0.94
R6523:Sall3	UTSW	18	80973188	missense	possibly damaging	0.68
R6719:Sall3	UTSW	18	80971506	missense	probably damaging	0.99
R6861:Sall3	UTSW	18	80974375	nonsense	probably null
R7078:Sall3	UTSW	18	80974099	missense	probably damaging	0.97
R7107:Sall3	UTSW	18	80973754	missense	probably benign	0.01
R7108:Sall3	UTSW	18	80973754	missense	probably benign	0.01
R7453:Sall3	UTSW	18	80972040	missense	probably benign	0.07
R7491:Sall3	UTSW	18	80972705	missense	probably benign	0.03
R7496:Sall3	UTSW	18	80973364	missense	probably benign	0.07
R7584:Sall3	UTSW	18	80974530	missense	probably benign	0.00
R7599:Sall3	UTSW	18	80972052	missense	possibly damaging	0.56
R7809:Sall3	UTSW	18	80974360	missense	probably benign	0.00
R8244:Sall3	UTSW	18	80973754	missense	probably benign	0.01
R8245:Sall3	UTSW	18	80973754	missense	probably benign	0.01
R8250:Sall3	UTSW	18	80973528	missense	probably benign	0.01
R8335:Sall3	UTSW	18	80969586	missense	probably benign	0.35
R8360:Sall3	UTSW	18	80974017	missense	probably benign	0.31
R8410:Sall3	UTSW	18	80973754	missense	probably benign	0.01
R8476:Sall3	UTSW	18	80972118	nonsense	probably null
R8712:Sall3	UTSW	18	80974021	missense	probably benign	0.03
R8726:Sall3	UTSW	18	80986493	missense	possibly damaging	0.89
R9192:Sall3	UTSW	18	80973909	missense	probably benign	0.05
R9653:Sall3	UTSW	18	80973013	missense	probably benign	0.03
R9701:Sall3	UTSW	18	80974228	missense	probably benign	0.07
Z1176:Sall3	UTSW	18	80972760	missense	probably benign	0.19
Z1177:Sall3	UTSW	18	80974276	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTAGACTTACTGGGAGCTGAGG -3'
(R):5'- GTGTCTAATAGAAGGTGCTCGG -3'

Sequencing Primer
(F):5'- TGAGGGATGCCTCCGTTC -3'
(R):5'- TCTGCTGACCCCAGACTAATACTTAG -3'

Posted On

2014-10-01