Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Sall3'

551286

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

045199-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7107 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81010204-81030236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81016969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 320 (P320S)

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: P320S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056967
Gene: ENSMUSG00000024565
AA Change: P320S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,867,299 (GRCm39)	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,726,261 (GRCm39)	E588G	probably benign	Het
Ahcy	G	A	2: 154,910,893 (GRCm39)	A25V	probably damaging	Het
Ank2	A	C	3: 126,797,631 (GRCm39)	L710R	probably damaging	Het
Ap1b1	A	G	11: 4,989,558 (GRCm39)	T824A	probably benign	Het
Arap2	T	A	5: 62,763,551 (GRCm39)	H1531L	probably damaging	Het
Atosb	A	T	4: 43,036,434 (GRCm39)	V99E	probably benign	Het
B3gnt7	T	C	1: 86,233,495 (GRCm39)	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,117,396 (GRCm39)	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,808,229 (GRCm39)	H301R	probably benign	Het
Casc3	T	A	11: 98,718,413 (GRCm39)	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,520,887 (GRCm39)	L63Q	probably damaging	Het
Cep250	A	G	2: 155,837,314 (GRCm39)	T2319A	probably benign	Het
Chd1	T	C	17: 15,981,628 (GRCm39)	S1356P	probably damaging	Het
Chd8	A	G	14: 52,450,129 (GRCm39)	S1542P	probably benign	Het
Clec2m	A	G	6: 129,299,915 (GRCm39)	C188R	probably damaging	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,593,315 (GRCm39)	R90C	possibly damaging	Het
Defa21	G	A	8: 21,515,724 (GRCm39)	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,801,681 (GRCm39)	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dtx4	A	T	19: 12,450,624 (GRCm39)	C529*	probably null	Het
Entpd3	A	G	9: 120,389,665 (GRCm39)	Y317C	probably damaging	Het
Erp29	T	A	5: 121,583,381 (GRCm39)	I182F	possibly damaging	Het
Fam161a	A	G	11: 22,973,452 (GRCm39)	R445G	possibly damaging	Het
Fam76a	T	A	4: 132,631,232 (GRCm39)	M238L	possibly damaging	Het
Fn1	T	C	1: 71,666,408 (GRCm39)	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,528,444 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,237,963 (GRCm39)	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,398,590 (GRCm39)	S59P	probably damaging	Het
Itpkc	C	A	7: 26,927,702 (GRCm39)	A71S	probably benign	Het
Kcnk10	G	A	12: 98,485,002 (GRCm39)	R45*	probably null	Het
Krcc1	A	G	6: 71,261,198 (GRCm39)	S77G	probably benign	Het
Lelp1	G	A	3: 92,042,821 (GRCm39)	T76I	unknown	Het
Lifr	A	T	15: 7,208,421 (GRCm39)	I600F	possibly damaging	Het
Lrrk1	T	A	7: 65,937,191 (GRCm39)	D987V	possibly damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo9a	A	G	9: 59,778,098 (GRCm39)	I1285V	probably benign	Het
Ndel1	T	C	11: 68,713,474 (GRCm39)	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,449,144 (GRCm39)	V449A	probably damaging	Het
Or10q12	A	G	19: 13,746,525 (GRCm39)	E273G	probably benign	Het
Or2r11	T	C	6: 42,437,488 (GRCm39)	N155S	possibly damaging	Het
Or2y1c	T	A	11: 49,361,261 (GRCm39)	Y94*	probably null	Het
Or51k1	A	T	7: 103,661,489 (GRCm39)	L140Q	probably benign	Het
Or5k3	A	C	16: 58,969,279 (GRCm39)	D22A	probably benign	Het
Osbpl1a	G	A	18: 12,974,310 (GRCm39)	R459*	probably null	Het
Pabpc1l	A	C	2: 163,884,399 (GRCm39)	T379P	probably damaging	Het
Pde2a	A	T	7: 101,071,175 (GRCm39)	Q15L	probably benign	Het
Pdk1	A	G	2: 71,726,085 (GRCm39)	N331S	probably benign	Het
Pfdn1	A	T	18: 36,584,519 (GRCm39)		probably null	Het
Pnliprp1	T	A	19: 58,717,582 (GRCm39)	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,843,076 (GRCm39)	D242E	possibly damaging	Het
Prmt9	T	A	8: 78,294,880 (GRCm39)	I408N	possibly damaging	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,035,934 (GRCm39)	D393V	probably damaging	Het
Rab5b	A	G	10: 128,519,062 (GRCm39)		probably null	Het
Rap1gap2	G	A	11: 74,283,945 (GRCm39)	R618C	probably damaging	Het
Rin1	A	G	19: 5,100,801 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,067,471 (GRCm39)	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,892,941 (GRCm39)	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,814,121 (GRCm39)	I189N	probably damaging	Het
Slc49a3	T	A	5: 108,596,581 (GRCm39)		probably null	Het
Spata31d1e	T	A	13: 59,889,997 (GRCm39)	R608*	probably null	Het
Spsb2	A	T	6: 124,787,244 (GRCm39)	Q226L	probably benign	Het
Stab2	T	C	10: 86,741,456 (GRCm39)	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,522,800 (GRCm39)	R500H	probably benign	Het
Syne1	A	G	10: 5,082,078 (GRCm39)	Y849H	probably damaging	Het
Tbck	T	A	3: 132,428,092 (GRCm39)	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,935,095 (GRCm39)	F1984L	probably benign	Het
Tnxb	T	A	17: 34,890,314 (GRCm39)	V219E	unknown	Het
Tpst1	T	A	5: 130,143,344 (GRCm39)	V294D	probably damaging	Het
Treml1	A	G	17: 48,667,247 (GRCm39)	Q44R	probably damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Vars2	A	G	17: 35,969,142 (GRCm39)	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,090,615 (GRCm39)	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,627,819 (GRCm39)	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,093,728 (GRCm39)	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,566,655 (GRCm39)	T179A	probably damaging	Het
Zmym2	A	G	14: 57,140,169 (GRCm39)	T3A	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
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
R6861:Sall3	UTSW	18	81,017,590 (GRCm39)	nonsense	probably null
R7078:Sall3	UTSW	18	81,017,314 (GRCm39)	missense	probably damaging	0.97
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'- TGGCAGCAATGCTAACCAG -3'
(R):5'- CAGCCTCAGTACAGCTTCAG -3'

Sequencing Primer
(F):5'- TTGGGGAAGATGACACTGCTG -3'
(R):5'- AGTACAGCTTCAGGGTCTGACTC -3'

Posted On

2019-05-15