Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Sall2'

504582

Institutional Source

Beutler Lab

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52548634-52566127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52550648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 847 (M847K)

Ref Sequence

ENSEMBL: ENSMUSP00000154331 (fasta)

Gene Model

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

AlphaFold

Q9QX96

Predicted Effect

probably benign
Transcript: ENSMUST00000058326
AA Change: M849K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: M849K

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 benign
Transcript: ENSMUST00000135523
AA Change: M847K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Chd2	C	A	7: 73,101,471 (GRCm39)	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,913,887 (GRCm39)	I719T	probably damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,528,749 (GRCm39)		probably null	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,514,887 (GRCm39)	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	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
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
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'- CTTCTGATGCTCCTCCAGAG -3'
(R):5'- GGCCATATCAGTACGAGGTGAC -3'

Sequencing Primer
(F):5'- TAGGAAAGCTCTGGCCACATACTTC -3'
(R):5'- CTCAGAAGAGGTATCTGGGGC -3'

Posted On

2018-02-28