Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02933:Sall2'

364175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sall2

Ensembl Gene

ENSMUSG00000049532

Gene Name

spalt like transcription factor 2

Synonyms

Msal-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02933

Quality Score

Status

Chromosome

Chromosomal Location

52311172-52328762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52313027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 902 (S902G)

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: S904G

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

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: S904G

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: S902G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	G	T	7: 44,363,012	S24Y	possibly damaging	Het
Adam15	T	C	3: 89,343,483	T609A	possibly damaging	Het
Ank1	C	T	8: 23,122,865	T1485I	possibly damaging	Het
Bbof1	A	G	12: 84,426,966	N357D	probably damaging	Het
Btn1a1	A	G	13: 23,460,527	F267S	possibly damaging	Het
C2cd2	A	T	16: 97,892,201	F157I	probably benign	Het
Cd55	T	C	1: 130,452,524	E239G	probably damaging	Het
Cnpy1	T	A	5: 28,207,121	H138L	probably benign	Het
Cpne4	T	C	9: 105,019,767	V373A	possibly damaging	Het
Dlg5	A	T	14: 24,158,499	S880T	probably benign	Het
Etv1	C	T	12: 38,781,833	T27I	probably benign	Het
Fam227b	T	A	2: 126,123,988		probably null	Het
Flcn	T	C	11: 59,803,757	S130G	probably damaging	Het
Flvcr2	T	C	12: 85,803,128		probably benign	Het
Git1	C	A	11: 77,501,076	H241Q	probably damaging	Het
Gm14496	T	A	2: 182,000,463	H642Q	probably benign	Het
Idh1	C	T	1: 65,161,913	S293N	probably damaging	Het
Itpr2	A	G	6: 146,312,904	S1449P	probably benign	Het
Mmel1	T	A	4: 154,883,630	L141Q	probably damaging	Het
Morn4	A	G	19: 42,076,222	I109T	probably benign	Het
Mrgprh	T	C	17: 12,877,709	Y279H	probably damaging	Het
Olfr356	T	A	2: 36,937,298	Y60N	probably damaging	Het
Osbpl8	T	C	10: 111,282,130	I578T	probably damaging	Het
Reg2	A	G	6: 78,407,934	Y153C	probably damaging	Het
Sesn3	C	T	9: 14,321,208	T259M	probably damaging	Het
Traf1	C	A	2: 34,949,095	D73Y	possibly damaging	Het
Trnt1	G	A	6: 106,773,426	G97D	probably benign	Het
Ttll11	T	C	2: 35,979,410	H72R	probably benign	Het
Txndc12	T	C	4: 108,857,996		probably null	Het
Zan	C	A	5: 137,428,414	S2490I	unknown	Het
Zfp955a	T	C	17: 33,243,709		probably null	Het
Zfyve26	A	C	12: 79,280,080	S756R	possibly damaging	Het
Zmynd8	T	C	2: 165,828,318	N412S	possibly 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
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
R4611:Sall2	UTSW	14	52313753	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

Posted On

2015-12-18