Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Sall2'

344764

Institutional Source

Beutler Lab

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52311172-52328762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52313753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 662 (C662R)

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: C662R

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

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: C662R

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: C660R

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,737,393	R200C	probably benign	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Apc	T	C	18: 34,318,565	L2804P	probably damaging	Het
Apob	C	A	12: 8,011,331	A3271E	probably damaging	Het
Asl	G	T	5: 130,018,316	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,586,943	V447A	probably benign	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,916,530	K509E	probably damaging	Het
Btnl1	T	C	17: 34,379,725	I105T	probably damaging	Het
Btnl10	A	G	11: 58,920,357	T169A	probably damaging	Het
C8b	T	C	4: 104,790,644	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,332,475	V181A	probably benign	Het
Cdan1	A	T	2: 120,730,720	V189D	probably damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,926,421	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,614,869	V24M	probably benign	Het
Cntnap4	G	T	8: 112,773,739		probably null	Het
Col27a1	G	A	4: 63,293,506	G91R	probably damaging	Het
Col5a3	A	G	9: 20,814,896		probably benign	Het
Dcc	C	T	18: 71,548,998		probably null	Het
Deaf1	T	A	7: 141,310,971	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,684,237	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,590,977	Y228*	probably null	Het
Doxl2	A	T	6: 48,975,156	Q5L	probably benign	Het
Eno1b	T	C	18: 48,047,703	V316A	probably damaging	Het
Exoc4	T	C	6: 33,438,405	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,801,268	C596S	probably benign	Het
Fn1	A	C	1: 71,624,178	Y1050*	probably null	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092	S732C	probably damaging	Het
Gcnt4	C	A	13: 96,946,482	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,624	V407A	probably benign	Het
Gria2	A	T	3: 80,692,492	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,225,710	K132R	probably damaging	Het
Ifi213	T	A	1: 173,589,914	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,550,050	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,602,836	Q11L	probably benign	Het
Klk14	T	C	7: 43,694,357	C163R	probably damaging	Het
Klk1b3	T	A	7: 44,201,265	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,729,254	C122F	possibly damaging	Het
Luzp2	T	C	7: 55,063,356		probably null	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mtor	T	A	4: 148,486,119	V1211E	probably benign	Het
Myb	T	A	10: 21,145,324	D402V	probably damaging	Het
Ncor2	G	A	5: 125,030,859	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,671,549	I258T	probably benign	Het
Npy6r	C	A	18: 44,276,401	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,644,947	L9H	probably damaging	Het
Olfr1364	A	T	13: 21,573,574	V294D	probably damaging	Het
Olfr1442	T	A	19: 12,674,954	Y250N	probably damaging	Het
Olfr145	T	A	9: 37,898,326	S307R	probably benign	Het
Olfr1475	C	T	19: 13,480,012	C62Y	probably damaging	Het
Olfr43	A	T	11: 74,206,535	V227D	possibly damaging	Het
Olfr519	A	G	7: 108,894,117	C97R	probably damaging	Het
Olfr727	C	A	14: 50,127,073	N165K	probably benign	Het
Olfr777	G	A	10: 129,268,405	A306V	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parg	G	A	14: 32,274,864	R304Q	probably damaging	Het
Pdf	T	G	8: 107,048,535	S22R	probably benign	Het
Phlpp2	A	T	8: 109,876,883	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,402,197	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,452,508		probably null	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Ptch2	G	A	4: 117,110,378	D748N	probably benign	Het
Rai14	A	C	15: 10,592,138	Y224D	probably damaging	Het
Rft1	A	G	14: 30,689,790	I432V	probably damaging	Het
Rictor	C	T	15: 6,787,144	A1299V	possibly damaging	Het
Scn4b	A	G	9: 45,150,439	N208D	probably damaging	Het
Sdhb	G	A	4: 140,972,915	G109R	probably damaging	Het
Sec16a	A	G	2: 26,441,805	V66A	probably benign	Het
Sema4g	A	G	19: 45,001,612	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Shc4	T	A	2: 125,655,682	D369V	probably benign	Het
Siglech	T	C	7: 55,771,693	L285P	probably damaging	Het
Skint6	A	G	4: 113,074,076	M506T	probably benign	Het
Slco1a6	C	A	6: 142,101,652	C404F	probably benign	Het
Slfn14	T	A	11: 83,283,314	K284*	probably null	Het
Sox14	A	G	9: 99,875,662	I8T	probably damaging	Het
Srpk3	A	G	X: 73,774,941	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,827,023	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,284,374	T479S	probably benign	Het
Tnik	T	C	3: 28,542,100		probably null	Het
Tnpo2	T	C	8: 85,053,803	S720P	probably benign	Het
Tpst1	A	G	5: 130,101,706	K6E	probably damaging	Het
Trank1	T	A	9: 111,362,261	I446N	probably damaging	Het
Trmt44	A	T	5: 35,575,007	D13E	probably benign	Het
Ubr4	T	A	4: 139,399,579	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,033,591	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,400	K212*	probably null	Het
Zbtb7c	C	T	18: 76,136,847	A2V	possibly damaging	Het
Zfp423	C	T	8: 87,688,081	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,132,979	V666M	probably damaging	Het
Zmat1	A	T	X: 134,972,945	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,588,106	T588A	probably benign	Het
Zscan25	G	A	5: 145,291,116	R530H	probably damaging	Het

Other mutations in Sall2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Sall2	APN	14	52314571	missense	probably damaging	1.00
IGL02152:Sall2	APN	14	52315514	missense	probably damaging	1.00
IGL02318:Sall2	APN	14	52315565	missense	probably damaging	1.00
IGL02933:Sall2	APN	14	52313027	missense	probably benign	0.00
IGL03165:Sall2	APN	14	52314168	missense	probably damaging	1.00
R1079:Sall2	UTSW	14	52313203	missense	probably benign	0.13
R1295:Sall2	UTSW	14	52313725	missense	probably damaging	1.00
R1674:Sall2	UTSW	14	52313836	missense	probably damaging	1.00
R1840:Sall2	UTSW	14	52313725	missense	probably damaging	1.00
R1989:Sall2	UTSW	14	52314439	missense	probably damaging	1.00
R2339:Sall2	UTSW	14	52313356	missense	probably damaging	1.00
R3407:Sall2	UTSW	14	52328104	missense	probably benign	0.03
R3870:Sall2	UTSW	14	52313994	missense	probably damaging	1.00
R3895:Sall2	UTSW	14	52314047	missense	probably damaging	0.99
R4059:Sall2	UTSW	14	52314571	missense	probably damaging	1.00
R4272:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4273:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4275:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4289:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4503:Sall2	UTSW	14	52313459	missense	probably benign
R4592:Sall2	UTSW	14	52313803	missense	probably damaging	1.00
R4615:Sall2	UTSW	14	52312750	missense	probably benign	0.20
R4640:Sall2	UTSW	14	52315159	missense	probably damaging	0.99
R4693:Sall2	UTSW	14	52314478	missense	probably damaging	1.00
R4921:Sall2	UTSW	14	52315393	missense	possibly damaging	0.93
R5007:Sall2	UTSW	14	52314493	missense	probably damaging	1.00
R5015:Sall2	UTSW	14	52315655	missense	possibly damaging	0.92
R5079:Sall2	UTSW	14	52314754	missense	probably damaging	1.00
R5419:Sall2	UTSW	14	52313129	missense	probably damaging	1.00
R5849:Sall2	UTSW	14	52314247	missense	probably benign	0.13
R6229:Sall2	UTSW	14	52313191	missense	probably benign
R6397:Sall2	UTSW	14	52315153	missense	probably damaging	1.00
R6422:Sall2	UTSW	14	52312724	makesense	probably null
R6456:Sall2	UTSW	14	52313593	missense	probably damaging	1.00
R6456:Sall2	UTSW	14	52313594	nonsense	probably null
R6786:Sall2	UTSW	14	52314621	missense	probably damaging	1.00
R7293:Sall2	UTSW	14	52314411	nonsense	probably null
R7496:Sall2	UTSW	14	52315561	missense	possibly damaging	0.63
R7792:Sall2	UTSW	14	52316064	missense	probably damaging	1.00
R8324:Sall2	UTSW	14	52312886	missense	probably benign	0.30
R9017:Sall2	UTSW	14	52313262	missense	possibly damaging	0.51
R9149:Sall2	UTSW	14	52313216	missense	possibly damaging	0.95
R9362:Sall2	UTSW	14	52313144	nonsense	probably null
R9571:Sall2	UTSW	14	52314373	missense	probably damaging	1.00
R9574:Sall2	UTSW	14	52314160	missense	probably damaging	1.00
R9641:Sall2	UTSW	14	52313425	missense	probably damaging	1.00
R9648:Sall2	UTSW	14	52313767	missense	probably damaging	1.00
R9694:Sall2	UTSW	14	52314667	missense	possibly damaging	0.63

Predicted Primers

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

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

Posted On

2015-09-25