Mutagenetix > Incidental Mutation

Incidental Mutation 'R9024:Snai2'

686444

Institutional Source

Beutler Lab

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 #

R9024 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14523716-14527249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14524769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 92 (S92P)

Ref Sequence

ENSEMBL: ENSMUSP00000023356 (fasta)

Gene Model

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

AlphaFold

P97469

Predicted Effect

probably benign
Transcript: ENSMUST00000023356
AA Change: S92P

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

SMART Domains

Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: S92P

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	A	3: 137,891,923 (GRCm39)	A16S	unknown	Het
Aldh3b1	T	A	19: 3,968,155 (GRCm39)	I335F	probably damaging	Het
Asph	A	T	4: 9,475,025 (GRCm39)	Y650N	probably damaging	Het
Atr	T	C	9: 95,789,416 (GRCm39)	V1524A	possibly damaging	Het
Ccin	A	G	4: 43,983,562 (GRCm39)		probably benign	Het
Cdk15	A	T	1: 59,326,957 (GRCm39)	I213F	probably damaging	Het
Chfr	G	T	5: 110,306,698 (GRCm39)	S481I	probably benign	Het
Coro2a	T	C	4: 46,542,323 (GRCm39)	D350G	probably benign	Het
Ctps1	C	A	4: 120,406,707 (GRCm39)	E350*	probably null	Het
Dctn4	G	A	18: 60,678,894 (GRCm39)		probably null	Het
Epha4	C	A	1: 77,365,169 (GRCm39)	R610L	possibly damaging	Het
Esp4	A	T	17: 40,911,102 (GRCm39)	M1L	unknown	Het
Fads3	T	C	19: 10,033,839 (GRCm39)	V408A	probably damaging	Het
Gm19402	T	A	10: 77,525,805 (GRCm39)	K263*	probably null	Het
Gm26657	G	T	4: 56,740,769 (GRCm39)		probably benign	Het
Hsdl1	A	G	8: 120,290,839 (GRCm39)	V311A	probably benign	Het
Hsp90b1	A	G	10: 86,541,174 (GRCm39)	F16L	possibly damaging	Het
Icmt	T	C	4: 152,385,161 (GRCm39)	C208R	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ipo7	T	A	7: 109,643,943 (GRCm39)		probably null	Het
Kif21a	T	A	15: 90,821,399 (GRCm39)	K1465*	probably null	Het
Klhl9	A	T	4: 88,639,999 (GRCm39)	F81I	probably damaging	Het
Kynu	A	G	2: 43,490,807 (GRCm39)	H170R	possibly damaging	Het
Mmp12	A	G	9: 7,355,444 (GRCm39)	Y397C	probably damaging	Het
Mpped2	T	C	2: 106,614,043 (GRCm39)	F126L	probably benign	Het
Muc2	C	T	7: 141,287,936 (GRCm39)	P236S	probably damaging	Het
Myo10	A	G	15: 25,793,295 (GRCm39)	T1291A	possibly damaging	Het
Myom2	T	C	8: 15,113,936 (GRCm39)	L28P	probably damaging	Het
Nfatc2	T	C	2: 168,328,648 (GRCm39)	*924W	probably null	Het
Nrip1	G	T	16: 76,088,388 (GRCm39)	Y1056*	probably null	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Oxr1	A	G	15: 41,694,518 (GRCm39)	Y20C	probably damaging	Het
P2ry2	T	C	7: 100,647,229 (GRCm39)	T359A	probably damaging	Het
Paxbp1	G	A	16: 90,840,963 (GRCm39)	R94C	possibly damaging	Het
Pbrm1	A	G	14: 30,783,623 (GRCm39)	Y569C	probably damaging	Het
Pkhd1	T	C	1: 20,592,975 (GRCm39)	T1713A	probably benign	Het
Plekha5	A	G	6: 140,370,176 (GRCm39)	S56G	probably benign	Het
Plekhg5	T	C	4: 152,197,118 (GRCm39)	I801T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pogz	A	T	3: 94,785,543 (GRCm39)	N833Y	probably damaging	Het
Polk	G	T	13: 96,623,340 (GRCm39)	H501N	probably benign	Het
Ptprd	T	C	4: 75,874,567 (GRCm39)	N1043S	probably damaging	Het
Rad18	A	T	6: 112,626,562 (GRCm39)	C448S	probably benign	Het
Rhof	T	A	5: 123,269,963 (GRCm39)	K65*	probably null	Het
Rpa2	T	C	4: 132,499,153 (GRCm39)	V74A	probably damaging	Het
Smarcc1	T	C	9: 110,015,001 (GRCm39)	M522T	probably damaging	Het
Srrt	C	A	5: 137,301,291 (GRCm39)	R45L	unknown	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tubd1	T	G	11: 86,445,991 (GRCm39)	H210Q	possibly damaging	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vmn2r63	T	G	7: 42,577,874 (GRCm39)	R221S	probably benign	Het
Vps13b	A	G	15: 35,923,470 (GRCm39)	I3782V	probably damaging	Het
Zfp184	T	A	13: 22,143,128 (GRCm39)	I278N	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
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
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'- CCCCATATCTCTATGAAAGTTACCC -3'
(R):5'- CTTGCAGCTGAACGATTTCC -3'

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

Posted On

2021-10-11