Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03412:Snai2'

421858

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snai2

Ensembl Gene

ENSMUSG00000022676

Gene Name

snail family zinc finger 2

Synonyms

Slugh, Snail2, Slug

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

IGL03412

Quality Score

Status

Chromosome

Chromosomal Location

14523716-14527249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14525120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 209 (T209S)

Ref Sequence

ENSEMBL: ENSMUSP00000023356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023356]

AlphaFold

P97469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023356
AA Change: T209S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: T209S

Domain	Start	End	E-Value	Type
PDB:3W5K\|B	1	59	4e-6	PDB
low complexity region	60	84	N/A	INTRINSIC
low complexity region	88	105	N/A	INTRINSIC
ZnF_C2H2	129	151	4.17e-3	SMART
ZnF_C2H2	160	182	6.88e-4	SMART
ZnF_C2H2	186	208	7.26e-3	SMART
ZnF_C2H2	214	236	9.88e-5	SMART
ZnF_C2H2	242	269	6.15e1	SMART

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 member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in growth retardation and eyelid deformities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,455,390 (GRCm39)	R736*	probably null	Het
Agpat2	T	C	2: 26,483,673 (GRCm39)	T255A	probably benign	Het
Akap3	G	A	6: 126,841,688 (GRCm39)	M102I	probably benign	Het
Cd300lb	C	A	11: 114,819,206 (GRCm39)	R5M	probably damaging	Het
Chrna5	A	T	9: 54,911,719 (GRCm39)	D69V	probably damaging	Het
Col9a1	G	A	1: 24,249,508 (GRCm39)		probably null	Het
Dnajb12	A	T	10: 59,725,895 (GRCm39)	H60L	probably benign	Het
Dnal1	T	A	12: 84,182,441 (GRCm39)	M1K	probably null	Het
Exoc7	C	T	11: 116,180,101 (GRCm39)	V655M	possibly damaging	Het
Fastkd3	A	G	13: 68,731,840 (GRCm39)	R54G	probably benign	Het
Fbln2	G	A	6: 91,248,763 (GRCm39)	D1143N	probably damaging	Het
Flii	C	T	11: 60,613,466 (GRCm39)	V174M	probably damaging	Het
Gtf2h4	T	C	17: 35,979,375 (GRCm39)	I388M	probably damaging	Het
Il20rb	A	G	9: 100,357,049 (GRCm39)	V27A	probably benign	Het
Kidins220	T	C	12: 25,049,344 (GRCm39)	S320P	probably damaging	Het
Kif1b	T	C	4: 149,359,396 (GRCm39)	S114G	probably benign	Het
Lama3	T	C	18: 12,552,239 (GRCm39)	V397A	probably damaging	Het
Man2a2	A	T	7: 80,016,746 (GRCm39)	V356D	probably damaging	Het
Mcpt9	T	G	14: 56,265,484 (GRCm39)	T72P	probably damaging	Het
Mmd	T	C	11: 90,148,429 (GRCm39)		probably null	Het
Mroh2b	G	A	15: 4,973,854 (GRCm39)	R1124Q	probably benign	Het
Mvp	T	C	7: 126,592,735 (GRCm39)	D392G	probably damaging	Het
Mycbpap	T	A	11: 94,398,927 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,080,395 (GRCm39)	H1203R	probably benign	Het
Nbeal1	T	A	1: 60,281,726 (GRCm39)	C816*	probably null	Het
Or4a70	T	A	2: 89,324,555 (GRCm39)	I34F	probably benign	Het
Or5an6	A	T	19: 12,371,743 (GRCm39)	T39S	probably damaging	Het
Pcdh12	C	T	18: 38,416,568 (GRCm39)	V186M	probably benign	Het
Pik3c2a	C	T	7: 116,017,074 (GRCm39)	E228K	probably benign	Het
Plcz1	A	C	6: 139,961,823 (GRCm39)	Y243D	probably damaging	Het
Rspo3	T	A	10: 29,411,270 (GRCm39)	I19F	possibly damaging	Het
Slc2a12	T	C	10: 22,540,868 (GRCm39)	L241P	probably damaging	Het
Slc4a10	G	A	2: 62,080,887 (GRCm39)		probably benign	Het
Sorcs2	T	C	5: 36,203,848 (GRCm39)	D549G	probably damaging	Het
Srsf12	G	A	4: 33,230,929 (GRCm39)	R141Q	probably damaging	Het
Stab1	T	G	14: 30,876,364 (GRCm39)	E908D	probably benign	Het
Stat6	A	T	10: 127,494,074 (GRCm39)	M634L	probably benign	Het
Tex21	A	G	12: 76,291,780 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,816,042 (GRCm39)	R1715L	probably damaging	Het
Ttll4	A	G	1: 74,726,480 (GRCm39)	I693V	probably benign	Het
Vmn1r5	A	T	6: 56,962,918 (GRCm39)	M198L	possibly damaging	Het
Vmn1r50	T	C	6: 90,085,007 (GRCm39)	Y251H	probably damaging	Het
Vmn2r59	A	G	7: 41,661,862 (GRCm39)	I651T	probably benign	Het
Wdr3	G	T	3: 100,059,293 (GRCm39)	T342K	probably benign	Het
Zbtb44	A	G	9: 30,964,763 (GRCm39)	T58A	probably benign	Het
Zeb2	A	G	2: 44,892,720 (GRCm39)		probably benign	Het
Zmym2	C	T	14: 57,197,176 (GRCm39)	Q1315*	probably null	Het
Zmym6	T	C	4: 126,986,731 (GRCm39)	I137T	probably damaging	Het

Other mutations in Snai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Snai2	APN	16	14,524,635 (GRCm39)	missense	probably benign	0.02
IGL03295:Snai2	APN	16	14,524,638 (GRCm39)	missense	possibly damaging	0.64
R0765:Snai2	UTSW	16	14,524,668 (GRCm39)	missense	possibly damaging	0.85
R0766:Snai2	UTSW	16	14,526,111 (GRCm39)	missense	possibly damaging	0.71
R1419:Snai2	UTSW	16	14,526,044 (GRCm39)	missense	possibly damaging	0.85
R1669:Snai2	UTSW	16	14,524,908 (GRCm39)	missense	possibly damaging	0.95
R2096:Snai2	UTSW	16	14,524,861 (GRCm39)	missense	possibly damaging	0.86
R2496:Snai2	UTSW	16	14,523,866 (GRCm39)	missense	possibly damaging	0.86
R2901:Snai2	UTSW	16	14,523,847 (GRCm39)	missense	possibly damaging	0.93
R4682:Snai2	UTSW	16	14,526,150 (GRCm39)	missense	probably benign
R4832:Snai2	UTSW	16	14,524,881 (GRCm39)	missense	probably damaging	0.97
R4879:Snai2	UTSW	16	14,524,605 (GRCm39)	missense	probably benign
R5025:Snai2	UTSW	16	14,526,053 (GRCm39)	missense	possibly damaging	0.95
R5794:Snai2	UTSW	16	14,524,590 (GRCm39)	missense	probably benign
R6143:Snai2	UTSW	16	14,526,107 (GRCm39)	nonsense	probably null
R6980:Snai2	UTSW	16	14,526,113 (GRCm39)	missense	possibly damaging	0.92
R7096:Snai2	UTSW	16	14,525,028 (GRCm39)	missense	possibly damaging	0.93
R7121:Snai2	UTSW	16	14,524,970 (GRCm39)	missense	probably benign	0.00
R7501:Snai2	UTSW	16	14,524,754 (GRCm39)	missense	possibly damaging	0.70
R8160:Snai2	UTSW	16	14,524,668 (GRCm39)	missense	possibly damaging	0.85
R8957:Snai2	UTSW	16	14,526,113 (GRCm39)	missense	probably damaging	0.97
R9024:Snai2	UTSW	16	14,524,769 (GRCm39)	missense	probably benign
R9201:Snai2	UTSW	16	14,524,632 (GRCm39)	missense	probably benign	0.37
R9207:Snai2	UTSW	16	14,524,946 (GRCm39)	missense	possibly damaging	0.85
R9228:Snai2	UTSW	16	14,524,792 (GRCm39)	missense	probably damaging	0.96
R9267:Snai2	UTSW	16	14,525,120 (GRCm39)	missense	possibly damaging	0.91
R9405:Snai2	UTSW	16	14,524,589 (GRCm39)	missense	probably benign	0.11

Posted On

2016-08-02