Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Sall2'

282073

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 #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

52311172-52328762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52315514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 73 (S73P)

Ref Sequence

ENSEMBL: ENSMUSP00000154331 (fasta)

Gene Model

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

AlphaFold

Q9QX96

Predicted Effect

probably damaging
Transcript: ENSMUST00000058326
AA Change: S75P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056401
Gene: ENSMUSG00000049532
AA Change: S75P

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: S73P

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,225	I143V	probably benign	Het
1700028K03Rik	A	G	5: 107,548,117	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,542,754	Y289H	possibly damaging	Het
Adamts17	T	A	7: 67,125,000	S956T	probably benign	Het
Adamts6	A	T	13: 104,313,660	S290C	probably null	Het
Apaf1	A	T	10: 91,061,819	H267Q	probably benign	Het
Aplp2	G	A	9: 31,211,651	P26L	unknown	Het
Arid1b	C	T	17: 5,313,968	S1019F	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Ass1	T	C	2: 31,492,324	I169T	probably damaging	Het
Ccser1	A	G	6: 61,311,708	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,649,012	V2737A	probably benign	Het
Chrm5	A	G	2: 112,480,568	Y68H	probably damaging	Het
Cops4	A	G	5: 100,533,590	T164A	probably benign	Het
Cox4i1	A	G	8: 120,672,865	S72G	probably benign	Het
Cpox	A	G	16: 58,674,424	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,873,156	I68T	probably benign	Het
Efna5	T	C	17: 62,651,060	D67G	probably benign	Het
Enpp3	T	C	10: 24,774,002	E842G	probably damaging	Het
Fam208b	C	T	13: 3,585,371	E479K	probably benign	Het
Fam210b	A	G	2: 172,351,503	K79E	probably benign	Het
Gm17359	T	C	3: 79,345,532	I18T	possibly damaging	Het
Gm4799	T	C	10: 82,954,755		noncoding transcript	Het
Gpr146	A	T	5: 139,392,712	R90W	probably damaging	Het
Hal	A	G	10: 93,503,542	I498V	possibly damaging	Het
Hist1h2af	A	G	13: 23,534,281	H124R	probably benign	Het
Hnrnpm	C	T	17: 33,658,412	G365R	probably damaging	Het
Jakmip3	A	G	7: 139,025,488	D407G	probably damaging	Het
Kank1	A	G	19: 25,428,172	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 111,025,210	M233L	probably benign	Het
Klhl5	A	T	5: 65,148,800	Q370L	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Las1l	A	G	X: 95,953,302	V130A	probably damaging	Het
Lrp2bp	A	T	8: 46,023,044	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,137,943	K285M	probably damaging	Het
Mpp3	A	T	11: 102,025,390	Y45*	probably null	Het
Muc4	T	A	16: 32,777,649		probably benign	Het
Muc5ac	T	C	7: 141,800,177	C837R	possibly damaging	Het
Mum1	A	G	10: 80,239,978	D466G	probably damaging	Het
Nr2f6	T	A	8: 71,376,166	I155F	probably damaging	Het
Nsg1	A	G	5: 38,144,801	F50L	probably benign	Het
Olfr304	T	A	7: 86,386,043	M206L	probably benign	Het
Ostf1	C	A	19: 18,590,458	G101C	probably damaging	Het
Pam	C	T	1: 97,840,749	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 109,669,292	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,669,285	H484L	probably benign	Het
Rfx5	G	A	3: 94,957,182	R213Q	probably damaging	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Sec22c	G	A	9: 121,684,779	A264V	probably benign	Het
Sis	A	C	3: 72,888,986		probably benign	Het
Spam1	T	A	6: 24,800,803		probably benign	Het
St13	T	A	15: 81,366,382	I318F	probably damaging	Het
Syne1	T	C	10: 5,424,382	I142V	probably damaging	Het
Trpm6	A	T	19: 18,832,539	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,135,540	W90*	probably null	Het
Txndc12	T	A	4: 108,834,792	C9*	probably null	Het
Ubr7	C	T	12: 102,768,276	Q270*	probably null	Het
Vps33b	A	G	7: 80,285,069	S302G	probably benign	Het
Xylt1	T	A	7: 117,634,770	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,436,691	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,332,928		probably benign	Het
Zscan18	A	T	7: 12,775,296		probably benign	Het

Other mutations in Sall2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01587:Sall2	APN	14	52314571	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
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

2015-04-16