Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Snai2'

72625

Institutional Source

Beutler Lab

Gene Symbol

Snai2

Ensembl Gene

ENSMUSG00000022676

Gene Name

snail family zinc finger 2

Synonyms

Slugh, Snail2, Slug

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14523716-14527249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14524668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 58 (V58A)

Ref Sequence

ENSEMBL: ENSMUSP00000023356 (fasta)

Gene Model

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

AlphaFold

P97469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023356
AA Change: V58A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: V58A

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

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	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
IGL03412:Snai2	APN	16	14,525,120 (GRCm39)	missense	possibly damaging	0.91
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

Predicted Primers

PCR Primer
(F):5'- GCCCAGGTGAAGGGAAGACTTTATG -3'
(R):5'- CCTTGCCACAGATCTTGCAGACAC -3'

Sequencing Primer
(F):5'- CACTAGAGAGTCTCCTATGGAGTC -3'
(R):5'- AACGATTTCCTAGACTGGGC -3'

Posted On

2013-09-30