Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Sall2'

722010

Institutional Source

Beutler Lab

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52548634-52566127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52551830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 455 (V455E)

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: V455E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: V455E

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: V453E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Iqce	C	T	5: 140,651,862 (GRCm39)	D704N	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	possibly damaging	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
R4693:Sall2	UTSW	14	52,551,935 (GRCm39)	missense	probably damaging	1.00
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
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'- GCCTTCATGAGCACAAACTTG -3'
(R):5'- TGTGCAAAAGTATTCGGCAGTG -3'

Sequencing Primer
(F):5'- CTTGTTGAAAGTAGGGAGCCC -3'
(R):5'- TATTCGGCAGTGACAGCG -3'

Posted On

2022-08-09