Mutagenetix > Incidental Mutation

Incidental Mutation 'R9648:Sall2'

726894

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 #

R9648 (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 G at 52551224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 657 (F657S)

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: F657S

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

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: F657S

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: F655S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,609,172 (GRCm39)	V798M	probably damaging	Het
Adprhl1	A	G	8: 13,273,245 (GRCm39)	L1171P	probably benign	Het
Atp2b2	C	T	6: 113,780,707 (GRCm39)		probably null	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Bptf	A	T	11: 106,943,720 (GRCm39)	N2720K	probably damaging	Het
Ccpg1	T	C	9: 72,919,312 (GRCm39)	L309S	probably damaging	Het
Cep295	T	C	9: 15,234,903 (GRCm39)	N2126S	probably benign	Het
Cln5	A	G	14: 103,313,734 (GRCm39)	T329A	probably benign	Het
Cmas	T	A	6: 142,716,935 (GRCm39)	L276M	probably benign	Het
Cnbd1	A	C	4: 19,098,142 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,444 (GRCm39)	N18S	probably damaging	Het
Dido1	C	A	2: 180,302,468 (GRCm39)	R1812I	probably damaging	Het
Dnajc2	G	A	5: 21,968,478 (GRCm39)	T403M	probably damaging	Het
Dnm1	T	A	2: 32,230,455 (GRCm39)	I120F	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Foxa2	T	A	2: 147,887,799 (GRCm39)	K12M	probably damaging	Het
Fut7	T	A	2: 25,315,336 (GRCm39)	V198E	probably damaging	Het
Gramd1b	A	T	9: 40,244,793 (GRCm39)	V205E	probably damaging	Het
Gtf2i	T	A	5: 134,284,770 (GRCm39)	N510Y	probably damaging	Het
H2-M1	T	C	17: 36,982,248 (GRCm39)	I118V	probably benign	Het
Icam1	T	C	9: 20,937,697 (GRCm39)	F245L	probably damaging	Het
Ifna16	C	T	4: 88,595,060 (GRCm39)	A12T	probably benign	Het
Il12rb2	T	C	6: 67,333,587 (GRCm39)	T231A	probably benign	Het
Klrb1a	T	C	6: 128,586,816 (GRCm39)		probably null	Het
Mc3r	T	C	2: 172,091,639 (GRCm39)	L287P	probably damaging	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Msh3	A	G	13: 92,478,757 (GRCm39)	V404A	probably benign	Het
Myrf	T	A	19: 10,188,010 (GRCm39)	I896F	possibly damaging	Het
Nup205	T	A	6: 35,202,746 (GRCm39)	Y1318N	probably benign	Het
Or2t47	A	T	11: 58,442,313 (GRCm39)	Y251N	probably damaging	Het
Or7g17	T	A	9: 18,768,748 (GRCm39)	S267T	possibly damaging	Het
Osbp	T	A	19: 11,943,590 (GRCm39)	W96R	probably damaging	Het
Pcf11	A	G	7: 92,307,318 (GRCm39)	L950P	probably damaging	Het
Pcnt	T	C	10: 76,190,089 (GRCm39)	T2816A	probably benign	Het
Pde7a	A	G	3: 19,310,966 (GRCm39)	Y87H	probably damaging	Het
Pip4k2c	T	C	10: 127,041,569 (GRCm39)	H163R	probably damaging	Het
Pld1	T	A	3: 28,174,900 (GRCm39)	L846Q	probably damaging	Het
Plppr2	T	A	9: 21,852,379 (GRCm39)	S113T	probably benign	Het
Pms1	A	T	1: 53,314,284 (GRCm39)	L87Q	probably damaging	Het
Rasa1	A	G	13: 85,436,690 (GRCm39)	S113P	possibly damaging	Het
Rexo1	T	A	10: 80,385,540 (GRCm39)	H506L	probably damaging	Het
Rps12	T	C	10: 23,662,777 (GRCm39)	I6V	probably benign	Het
Rsph3a	T	C	17: 8,171,395 (GRCm39)	M170T	probably benign	Het
Rsrc2	A	G	5: 123,877,688 (GRCm39)	S156P	unknown	Het
Rtp3	T	C	9: 110,815,586 (GRCm39)	T260A	probably benign	Het
Serpind1	T	A	16: 17,154,318 (GRCm39)	N48K	probably benign	Het
Slc38a11	T	A	2: 65,188,484 (GRCm39)	D95V	probably benign	Het
Slc5a4a	T	C	10: 76,002,608 (GRCm39)	C255R	probably damaging	Het
Slc6a12	C	A	6: 121,335,661 (GRCm39)	Y330*	probably null	Het
Slco1b2	T	C	6: 141,602,655 (GRCm39)	Y203H	possibly damaging	Het
Spdye4a	C	T	5: 143,210,848 (GRCm39)	R74K	probably benign	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stat1	A	T	1: 52,165,695 (GRCm39)	D97V	probably damaging	Het
Stk11ip	A	G	1: 75,505,585 (GRCm39)	E418G	probably damaging	Het
Tcf20	T	C	15: 82,739,876 (GRCm39)	D525G	probably damaging	Het
Tcstv7b	C	T	13: 120,702,495 (GRCm39)	P97L	possibly damaging	Het
Tlr2	A	T	3: 83,745,840 (GRCm39)	L81Q	probably damaging	Het
Tmt1a3	C	T	15: 100,232,857 (GRCm39)	A16V	probably benign	Het
Trim50	T	A	5: 135,395,475 (GRCm39)	I277N	probably damaging	Het
Ttn	T	A	2: 76,619,806 (GRCm39)	Q15954L	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,960,494 (GRCm39)	K592R	probably benign	Het
Xirp2	A	G	2: 67,346,599 (GRCm39)	I2947V	probably benign	Het
Zan	A	C	5: 137,405,992 (GRCm39)	F3746V	unknown	Het
Zfp418	G	A	7: 7,185,171 (GRCm39)	S378N	probably benign	Het
Zfp518b	C	G	5: 38,830,240 (GRCm39)	Q588H	probably damaging	Het
Zfp959	G	A	17: 56,204,212 (GRCm39)	R83K	possibly damaging	Het
Znrf3	G	A	11: 5,231,915 (GRCm39)	R437C	probably 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
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
R9694:Sall2	UTSW	14	52,552,124 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CACCTTCAGAAAGTGCGGAAC -3'
(R):5'- AGCTAGTAGAAAAGATTGACCGCC -3'

Sequencing Primer
(F):5'- GAAAGTGCGGAACCCCCATTG -3'
(R):5'- ATTGACCGCCAAGGAGCTG -3'

Posted On

2022-10-06