Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Snai2'

73340

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: 0.896) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

14523716-14527249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14524635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

Ref Sequence

ENSEMBL: ENSMUSP00000023356 (fasta)

Gene Model

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

AlphaFold

P97469

Predicted Effect

probably benign
Transcript: ENSMUST00000023356
AA Change: I47T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: I47T

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Cby2	T	A	14: 75,830,085 (GRCm39)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,186,930 (GRCm39)	A190S	probably damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,194,005 (GRCm39)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,355,410 (GRCm39)	D227N	probably benign	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,240,181 (GRCm39)	F613L	probably benign	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Snai2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03295:Snai2	APN	16	14,524,638 (GRCm39)	missense	possibly damaging	0.64
IGL03412:Snai2	APN	16	14,525,120 (GRCm39)	missense	possibly damaging	0.91
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

2013-10-07