Mutagenetix > Incidental Mutation

Incidental Mutation 'R2124:Sall3'

229707

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

040127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81010204-81030236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81015012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 972 (G972D)

Ref Sequence

ENSEMBL: ENSMUSP00000056967 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057950
AA Change: G972D

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: G972D

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

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adgrg6	T	C	10: 14,342,930 (GRCm39)	D339G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap3	A	C	18: 38,106,403 (GRCm39)	L1480R	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Aspg	G	A	12: 112,087,608 (GRCm39)	V8I	probably benign	Het
Aven	T	A	2: 112,455,541 (GRCm39)	W26R	probably damaging	Het
Car4	T	A	11: 84,854,911 (GRCm39)		probably benign	Het
Cd163	C	T	6: 124,295,815 (GRCm39)	R720C	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cdh3	A	T	8: 107,279,520 (GRCm39)	H712L	probably damaging	Het
Cdr2	T	C	7: 120,581,250 (GRCm39)	E9G	probably damaging	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Chrnb2	T	C	3: 89,676,648 (GRCm39)		probably benign	Het
Col4a2	C	A	8: 11,466,070 (GRCm39)	P443Q	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Ddias	T	C	7: 92,507,464 (GRCm39)	Q817R	probably benign	Het
Ddx6	C	T	9: 44,535,816 (GRCm39)	Q182*	probably null	Het
Dhrs7	A	G	12: 72,699,951 (GRCm39)	I227T	probably damaging	Het
Dhx8	A	T	11: 101,653,071 (GRCm39)	M970L	probably damaging	Het
Dnah7a	A	T	1: 53,536,101 (GRCm39)	D2647E	possibly damaging	Het
Dstyk	G	A	1: 132,380,857 (GRCm39)	G451R	possibly damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Efl1	C	T	7: 82,342,121 (GRCm39)	R510C	probably damaging	Het
Eif4g3	A	G	4: 137,912,053 (GRCm39)	E1409G	probably damaging	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fcgbp	T	C	7: 27,791,444 (GRCm39)	Y902H	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gbp9	T	A	5: 105,242,409 (GRCm39)	D110V	probably damaging	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gm10542	T	A	18: 44,334,355 (GRCm39)	W9R	probably null	Het
Gpaa1	A	G	15: 76,217,552 (GRCm39)	Y330C	probably damaging	Het
Hectd4	T	C	5: 121,456,702 (GRCm39)	L689P	probably damaging	Het
Hoxd3	C	A	2: 74,574,578 (GRCm39)	P75T	possibly damaging	Het
Ikbkb	A	G	8: 23,156,036 (GRCm39)	L570P	probably damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Kidins220	G	A	12: 25,091,302 (GRCm39)		probably null	Het
Kif1b	T	C	4: 149,306,753 (GRCm39)	D869G	probably benign	Het
Loxl2	T	C	14: 69,929,859 (GRCm39)	Y746H	probably benign	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Msantd2	C	T	9: 37,434,227 (GRCm39)	R357W	probably damaging	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 106,103,084 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,537,297 (GRCm39)	V1716A	probably benign	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Rims1	T	A	1: 22,474,732 (GRCm39)	R200*	probably null	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sdk1	C	A	5: 142,170,943 (GRCm39)	D1935E	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Syt16	T	A	12: 74,285,009 (GRCm39)	S401T	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tbcd	A	G	11: 121,494,146 (GRCm39)	Y983C	probably damaging	Het
Tenm3	A	G	8: 48,870,041 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Top2a	T	C	11: 98,895,054 (GRCm39)	I849V	probably benign	Het
Ttn	A	G	2: 76,624,792 (GRCm39)	V13516A	probably damaging	Het
Uxs1	A	G	1: 43,814,006 (GRCm39)	L77P	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vmn2r84	A	C	10: 130,227,100 (GRCm39)	M246R	probably damaging	Het
Vps13b	T	A	15: 35,646,226 (GRCm39)	N1443K	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp616	A	G	11: 73,973,869 (GRCm39)		probably null	Het
Zmym1	T	C	4: 126,943,363 (GRCm39)	T244A	probably benign	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
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
R6861:Sall3	UTSW	18	81,017,590 (GRCm39)	nonsense	probably null
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'- AAGTTACCCATAGTGGAGCAGC -3'
(R):5'- TTGAGCAACGACTCCTCCTCTG -3'

Sequencing Primer
(F):5'- ATAGTGGAGCAGCCTCGC -3'
(R):5'- TGCCCTATCGGAGTCCTCG -3'

Posted On

2014-09-17