Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Sall2'

355061

Institutional Source

Beutler Lab

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52548634-52566127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52551935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 420 (H420R)

Ref Sequence

ENSEMBL: ENSMUSP00000056401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058326] [ENSMUST00000135523]

AlphaFold

Q9QX96

Predicted Effect

probably damaging
Transcript: ENSMUST00000058326
AA Change: H420R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: H420R

Domain	Start	End	E-Value	Type
low complexity region	71	81	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
low complexity region	151	170	N/A	INTRINSIC
ZnF_C2H2	372	394	2.57e-3	SMART
ZnF_C2H2	400	422	1.28e-3	SMART
low complexity region	476	501	N/A	INTRINSIC
low complexity region	602	627	N/A	INTRINSIC
ZnF_C2H2	629	651	1.2e1	SMART
ZnF_C2H2	657	679	1.69e-3	SMART
ZnF_C2H2	689	711	6.88e-4	SMART
low complexity region	719	730	N/A	INTRINSIC
low complexity region	747	779	N/A	INTRINSIC
low complexity region	799	819	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
ZnF_C2H2	908	930	2.09e-3	SMART
ZnF_C2H2	937	960	1.01e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135523
AA Change: H418R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in no apparent abnormal phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Pfkp	C	T	13: 6,650,671 (GRCm39)	G467D	possibly damaging	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	Het

Other mutations in Sall2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Sall2	APN	14	52,552,028 (GRCm39)	missense	probably damaging	1.00
IGL02152:Sall2	APN	14	52,552,971 (GRCm39)	missense	probably damaging	1.00
IGL02318:Sall2	APN	14	52,553,022 (GRCm39)	missense	probably damaging	1.00
IGL02933:Sall2	APN	14	52,550,484 (GRCm39)	missense	probably benign	0.00
IGL03165:Sall2	APN	14	52,551,625 (GRCm39)	missense	probably damaging	1.00
R1079:Sall2	UTSW	14	52,550,660 (GRCm39)	missense	probably benign	0.13
R1295:Sall2	UTSW	14	52,551,182 (GRCm39)	missense	probably damaging	1.00
R1674:Sall2	UTSW	14	52,551,293 (GRCm39)	missense	probably damaging	1.00
R1840:Sall2	UTSW	14	52,551,182 (GRCm39)	missense	probably damaging	1.00
R1989:Sall2	UTSW	14	52,551,896 (GRCm39)	missense	probably damaging	1.00
R2339:Sall2	UTSW	14	52,550,813 (GRCm39)	missense	probably damaging	1.00
R3407:Sall2	UTSW	14	52,565,561 (GRCm39)	missense	probably benign	0.03
R3870:Sall2	UTSW	14	52,551,451 (GRCm39)	missense	probably damaging	1.00
R3895:Sall2	UTSW	14	52,551,504 (GRCm39)	missense	probably damaging	0.99
R4059:Sall2	UTSW	14	52,552,028 (GRCm39)	missense	probably damaging	1.00
R4272:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4273:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4275:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4289:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4503:Sall2	UTSW	14	52,550,916 (GRCm39)	missense	probably benign
R4592:Sall2	UTSW	14	52,551,260 (GRCm39)	missense	probably damaging	1.00
R4611:Sall2	UTSW	14	52,551,210 (GRCm39)	missense	probably damaging	1.00
R4615:Sall2	UTSW	14	52,550,207 (GRCm39)	missense	probably benign	0.20
R4640:Sall2	UTSW	14	52,552,616 (GRCm39)	missense	probably damaging	0.99
R4921:Sall2	UTSW	14	52,552,850 (GRCm39)	missense	possibly damaging	0.93
R5007:Sall2	UTSW	14	52,551,950 (GRCm39)	missense	probably damaging	1.00
R5015:Sall2	UTSW	14	52,553,112 (GRCm39)	missense	possibly damaging	0.92
R5079:Sall2	UTSW	14	52,552,211 (GRCm39)	missense	probably damaging	1.00
R5419:Sall2	UTSW	14	52,550,586 (GRCm39)	missense	probably damaging	1.00
R5849:Sall2	UTSW	14	52,551,704 (GRCm39)	missense	probably benign	0.13
R6229:Sall2	UTSW	14	52,550,648 (GRCm39)	missense	probably benign
R6397:Sall2	UTSW	14	52,552,610 (GRCm39)	missense	probably damaging	1.00
R6422:Sall2	UTSW	14	52,550,181 (GRCm39)	makesense	probably null
R6456:Sall2	UTSW	14	52,551,051 (GRCm39)	nonsense	probably null
R6456:Sall2	UTSW	14	52,551,050 (GRCm39)	missense	probably damaging	1.00
R6786:Sall2	UTSW	14	52,552,078 (GRCm39)	missense	probably damaging	1.00
R7293:Sall2	UTSW	14	52,551,868 (GRCm39)	nonsense	probably null
R7496:Sall2	UTSW	14	52,553,018 (GRCm39)	missense	possibly damaging	0.63
R7792:Sall2	UTSW	14	52,553,521 (GRCm39)	missense	probably damaging	1.00
R8324:Sall2	UTSW	14	52,550,343 (GRCm39)	missense	probably benign	0.30
R9017:Sall2	UTSW	14	52,550,719 (GRCm39)	missense	possibly damaging	0.51
R9149:Sall2	UTSW	14	52,550,673 (GRCm39)	missense	possibly damaging	0.95
R9362:Sall2	UTSW	14	52,550,601 (GRCm39)	nonsense	probably null
R9571:Sall2	UTSW	14	52,551,830 (GRCm39)	missense	probably damaging	1.00
R9574:Sall2	UTSW	14	52,551,617 (GRCm39)	missense	probably damaging	1.00
R9641:Sall2	UTSW	14	52,550,882 (GRCm39)	missense	probably damaging	1.00
R9648:Sall2	UTSW	14	52,551,224 (GRCm39)	missense	probably damaging	1.00
R9694:Sall2	UTSW	14	52,552,124 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CTTGTTGAAAGTAGGGAGCCC -3'
(R):5'- CAGTTCCTTGGAGAAACCCG -3'

Sequencing Primer
(F):5'- AGAGCAGTGTCAGGCTCTCTG -3'
(R):5'- AACCCGGTGGAAGGCAC -3'

Posted On

2015-10-21