Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Sall3'

535567

Institutional Source

Beutler Lab

Gene Symbol

Sall3

Ensembl Gene

ENSMUSG00000024565

Gene Name

spalt like transcription factor 3

Synonyms

Salt, B130022O04Rik, Spalt, Msal, Msal-1

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81010204-81030236 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 81017590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 113 (E113*)

Ref Sequence

ENSEMBL: ENSMUSP00000056967 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000057950
AA Change: E113*

SMART Domains

Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: E113*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	A	3: 95,588,194 (GRCm39)	R598C	probably damaging	Het
Adra2a	T	C	19: 54,034,818 (GRCm39)	L58P	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Alox5ap	A	G	5: 149,201,927 (GRCm39)	D2G	probably damaging	Het
Arid1b	G	A	17: 5,377,961 (GRCm39)	V1238M	possibly damaging	Het
Bank1	A	G	3: 135,960,764 (GRCm39)	V31A	probably benign	Het
Bptf	G	A	11: 106,953,391 (GRCm39)	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401 (GRCm38)	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214 (GRCm39)	I220V	probably benign	Het
Cep192	G	A	18: 67,974,699 (GRCm39)	M1267I	probably benign	Het
Cers5	G	A	15: 99,670,244 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,964,274 (GRCm39)	I558N	probably damaging	Het
Cfh	A	T	1: 140,028,621 (GRCm39)	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,107 (GRCm39)	I689V	probably benign	Het
Cgrrf1	T	C	14: 47,069,785 (GRCm39)	I18T	probably damaging	Het
CK137956	A	G	4: 127,864,519 (GRCm39)	S37P	probably damaging	Het
Clca4a	T	C	3: 144,676,416 (GRCm39)	D88G	probably benign	Het
Col11a1	G	A	3: 113,961,141 (GRCm39)	G1166D	probably damaging	Het
Col24a1	G	A	3: 145,166,589 (GRCm39)	G1075S	probably damaging	Het
Crispld2	C	T	8: 120,752,852 (GRCm39)	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,562,701 (GRCm39)	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,307,773 (GRCm39)	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,346,789 (GRCm39)	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,373,207 (GRCm39)	S525T	probably benign	Het
Drc7	T	G	8: 95,789,025 (GRCm39)		probably null	Het
Efhd2	G	T	4: 141,587,192 (GRCm39)		probably null	Het
Epb41l1	A	T	2: 156,367,142 (GRCm39)	E658D	probably benign	Het
Evi5	C	T	5: 107,896,184 (GRCm39)	S753N	probably benign	Het
Exoc3	A	T	13: 74,337,319 (GRCm39)	D427E	probably benign	Het
Fbxw9	A	G	8: 85,792,740 (GRCm39)	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,732,910 (GRCm39)	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,229,523 (GRCm39)	Y108F	probably damaging	Het
Gcn1	A	G	5: 115,749,108 (GRCm39)	D1880G	probably benign	Het
Gm4924	T	A	10: 82,214,948 (GRCm39)	Y915*	probably null	Het
Gpr139	T	A	7: 118,743,875 (GRCm39)	I237F	probably benign	Het
Hao2	A	G	3: 98,784,498 (GRCm39)	L289S	probably damaging	Het
Hexim1	A	G	11: 103,007,793 (GRCm39)	S16G	probably benign	Het
Hmgcs1	T	A	13: 120,161,535 (GRCm39)	M109K	probably damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,529,328 (GRCm39)	N101Y	probably damaging	Het
Idh2	G	A	7: 79,747,966 (GRCm39)	P245S	probably damaging	Het
Irx3	A	G	8: 92,525,530 (GRCm39)		probably benign	Het
Lilra5	A	T	7: 4,244,931 (GRCm39)	D234V	probably benign	Het
Lrfn5	G	A	12: 61,886,476 (GRCm39)	S88N	probably damaging	Het
Lrp2	A	T	2: 69,343,721 (GRCm39)	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,824,781 (GRCm39)	S249P	probably benign	Het
Ltbp1	C	T	17: 75,534,187 (GRCm39)	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,645 (GRCm39)			Het
Mier2	C	T	10: 79,376,990 (GRCm39)		probably benign	Het
Mup6	G	C	4: 60,004,093 (GRCm39)	G70A	probably benign	Het
Neb	A	G	2: 52,085,732 (GRCm39)	L5258P	probably damaging	Het
Nlrc5	G	A	8: 95,247,857 (GRCm39)		probably benign	Het
Nr6a1	A	T	2: 38,630,597 (GRCm39)	F207I	possibly damaging	Het
Or2y1	A	T	11: 49,385,632 (GRCm39)	T91S	probably benign	Het
Or5k17	A	T	16: 58,746,867 (GRCm39)	D22E	probably benign	Het
Or8b43	T	C	9: 38,360,731 (GRCm39)	C188R	probably damaging	Het
Osbp2	A	G	11: 3,665,191 (GRCm39)	V51A	possibly damaging	Het
Papln	G	T	12: 83,821,723 (GRCm39)	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,265,904 (GRCm39)	S454P	probably damaging	Het
Pde4a	C	T	9: 21,116,597 (GRCm39)	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,385 (GRCm39)	S279*	probably null	Het
Rbl1	A	G	2: 156,994,887 (GRCm39)	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	C	9: 119,359,089 (GRCm39)	F653V	probably damaging	Het
Selenok	T	A	14: 29,692,005 (GRCm39)	N14K	possibly damaging	Het
Slc22a20	T	C	19: 6,021,838 (GRCm39)	T426A	probably benign	Het
Slc4a2	T	A	5: 24,640,007 (GRCm39)	S563T	probably damaging	Het
Sspo	T	A	6: 48,464,889 (GRCm39)	S3798T	probably benign	Het
Stag3	G	T	5: 138,302,969 (GRCm39)	R63L	possibly damaging	Het
Stard9	A	T	2: 120,535,667 (GRCm39)	M3975L	probably benign	Het
Syne2	C	A	12: 75,956,040 (GRCm39)	T582K	probably damaging	Het
Synj1	G	A	16: 90,760,768 (GRCm39)	Q748*	probably null	Het
Tas2r109	T	C	6: 132,957,048 (GRCm39)	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,245,603 (GRCm39)	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,245,703 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,730,955 (GRCm39)	D19G	probably damaging	Het
Tecta	A	G	9: 42,248,633 (GRCm39)	V1923A	possibly damaging	Het
Tg	T	A	15: 66,560,740 (GRCm39)	M1034K	probably benign	Het
Ttf2	T	C	3: 100,876,941 (GRCm39)	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,541 (GRCm39)	V983E	probably damaging	Het
Vps35l	A	G	7: 118,342,898 (GRCm39)	H32R	probably damaging	Het
Vwa2	T	C	19: 56,890,025 (GRCm39)	V210A	probably benign	Het
Xkr6	T	A	14: 64,057,093 (GRCm39)	Y335N	probably benign	Het
Zfp97	A	G	17: 17,365,437 (GRCm39)	H312R	probably damaging	Het

Other mutations in Sall3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Sall3	APN	18	81,016,447 (GRCm39)	missense	probably damaging	0.98
IGL01630:Sall3	APN	18	81,014,484 (GRCm39)	missense	probably benign	0.03
IGL01713:Sall3	APN	18	81,013,062 (GRCm39)	missense	probably damaging	1.00
IGL01803:Sall3	APN	18	81,013,047 (GRCm39)	missense	possibly damaging	0.65
IGL02627:Sall3	APN	18	81,015,576 (GRCm39)	missense	possibly damaging	0.86
IGL02858:Sall3	APN	18	81,012,728 (GRCm39)	missense	probably damaging	1.00
IGL03177:Sall3	APN	18	81,016,183 (GRCm39)	missense	probably benign	0.00
fountain	UTSW	18	81,017,691 (GRCm39)	missense	probably damaging	0.99
IGL02984:Sall3	UTSW	18	81,016,665 (GRCm39)	missense	probably benign	0.01
R1055:Sall3	UTSW	18	81,013,007 (GRCm39)	missense	probably benign	0.24
R1258:Sall3	UTSW	18	81,017,280 (GRCm39)	missense	probably damaging	1.00
R1932:Sall3	UTSW	18	81,012,968 (GRCm39)	missense	probably benign	0.44
R1976:Sall3	UTSW	18	81,015,108 (GRCm39)	missense	probably benign	0.42
R2124:Sall3	UTSW	18	81,015,012 (GRCm39)	missense	probably benign	0.01
R2142:Sall3	UTSW	18	81,013,046 (GRCm39)	missense	probably damaging	0.98
R2199:Sall3	UTSW	18	81,015,085 (GRCm39)	missense	probably benign	0.27
R2365:Sall3	UTSW	18	81,015,007 (GRCm39)	missense	probably benign	0.01
R3856:Sall3	UTSW	18	81,015,717 (GRCm39)	missense	probably damaging	1.00
R4022:Sall3	UTSW	18	81,013,055 (GRCm39)	missense	probably benign	0.05
R4050:Sall3	UTSW	18	81,014,697 (GRCm39)	missense	probably benign	0.03
R4085:Sall3	UTSW	18	81,015,348 (GRCm39)	missense	probably damaging	0.99
R4764:Sall3	UTSW	18	81,017,691 (GRCm39)	missense	probably damaging	0.99
R4874:Sall3	UTSW	18	81,017,188 (GRCm39)	missense	probably benign	0.33
R4948:Sall3	UTSW	18	81,014,626 (GRCm39)	missense	probably benign	0.20
R5274:Sall3	UTSW	18	81,013,052 (GRCm39)	missense	probably benign	0.15
R5602:Sall3	UTSW	18	81,016,027 (GRCm39)	missense	probably benign
R6063:Sall3	UTSW	18	81,017,470 (GRCm39)	missense	possibly damaging	0.52
R6256:Sall3	UTSW	18	81,013,076 (GRCm39)	missense	possibly damaging	0.74
R6431:Sall3	UTSW	18	81,016,402 (GRCm39)	missense	possibly damaging	0.94
R6523:Sall3	UTSW	18	81,016,403 (GRCm39)	missense	possibly damaging	0.68
R6719:Sall3	UTSW	18	81,014,721 (GRCm39)	missense	probably damaging	0.99
R7078:Sall3	UTSW	18	81,017,314 (GRCm39)	missense	probably damaging	0.97
R7107:Sall3	UTSW	18	81,016,969 (GRCm39)	missense	probably benign	0.01
R7108:Sall3	UTSW	18	81,016,969 (GRCm39)	missense	probably benign	0.01
R7453:Sall3	UTSW	18	81,015,255 (GRCm39)	missense	probably benign	0.07
R7491:Sall3	UTSW	18	81,015,920 (GRCm39)	missense	probably benign	0.03
R7496:Sall3	UTSW	18	81,016,579 (GRCm39)	missense	probably benign	0.07
R7584:Sall3	UTSW	18	81,017,745 (GRCm39)	missense	probably benign	0.00
R7599:Sall3	UTSW	18	81,015,267 (GRCm39)	missense	possibly damaging	0.56
R7809:Sall3	UTSW	18	81,017,575 (GRCm39)	missense	probably benign	0.00
R8244:Sall3	UTSW	18	81,016,969 (GRCm39)	missense	probably benign	0.01
R8245:Sall3	UTSW	18	81,016,969 (GRCm39)	missense	probably benign	0.01
R8250:Sall3	UTSW	18	81,016,743 (GRCm39)	missense	probably benign	0.01
R8335:Sall3	UTSW	18	81,012,801 (GRCm39)	missense	probably benign	0.35
R8360:Sall3	UTSW	18	81,017,232 (GRCm39)	missense	probably benign	0.31
R8410:Sall3	UTSW	18	81,016,969 (GRCm39)	missense	probably benign	0.01
R8476:Sall3	UTSW	18	81,015,333 (GRCm39)	nonsense	probably null
R8712:Sall3	UTSW	18	81,017,236 (GRCm39)	missense	probably benign	0.03
R8726:Sall3	UTSW	18	81,029,708 (GRCm39)	missense	possibly damaging	0.89
R9192:Sall3	UTSW	18	81,017,124 (GRCm39)	missense	probably benign	0.05
R9653:Sall3	UTSW	18	81,016,228 (GRCm39)	missense	probably benign	0.03
R9701:Sall3	UTSW	18	81,017,443 (GRCm39)	missense	probably benign	0.07
Z1176:Sall3	UTSW	18	81,015,975 (GRCm39)	missense	probably benign	0.19
Z1177:Sall3	UTSW	18	81,017,491 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCACCCTGTGAGAACTGTG -3'
(R):5'- GCTGTGCAGAGTTCTTCAAG -3'

Sequencing Primer
(F):5'- CTCCAGGGTCACATTGGTACTAG -3'
(R):5'- TCTTCAAGTGGGCGGACTTCC -3'

Posted On

2018-09-12