Mutagenetix > Incidental Mutation

Incidental Mutation 'R2096:Snai2'

232136

Institutional Source

Beutler Lab

Gene Symbol

Snai2

Ensembl Gene

ENSMUSG00000022676

Gene Name

snail family zinc finger 2

Synonyms

Slugh, Snail2, Slug

MMRRC Submission

040100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R2096 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14523716-14527249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14524861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 122 (H122Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023356 (fasta)

Gene Model

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

AlphaFold

P97469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023356
AA Change: H122Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023356
Gene: ENSMUSG00000022676
AA Change: H122Q

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,709,195 (GRCm39)	S120P	probably benign	Het
Actr3b	T	A	5: 26,036,743 (GRCm39)	Y185*	probably null	Het
Atg101	T	A	15: 101,188,382 (GRCm39)	H162Q	possibly damaging	Het
Btf3	T	A	13: 98,449,659 (GRCm39)	Q109L	possibly damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Capn7	T	G	14: 31,071,844 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,155,537 (GRCm39)	V17A	probably benign	Het
Cenpf	A	G	1: 189,385,656 (GRCm39)	V2208A	possibly damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Comp	T	C	8: 70,828,713 (GRCm39)	C182R	probably damaging	Het
Ctsl	A	G	13: 64,516,840 (GRCm39)		probably null	Het
Cyp3a44	G	T	5: 145,725,215 (GRCm39)	Q329K	probably damaging	Het
Dcpp1	A	T	17: 24,099,971 (GRCm39)		probably null	Het
Dhx38	A	G	8: 110,280,891 (GRCm39)	V831A	probably damaging	Het
Dkk2	T	C	3: 131,791,858 (GRCm39)	M22T	probably benign	Het
Dnah2	C	T	11: 69,346,742 (GRCm39)	E2615K	probably damaging	Het
Dpy19l3	A	G	7: 35,426,713 (GRCm39)		probably null	Het
Gm12888	T	G	4: 121,176,655 (GRCm39)	I49L	probably benign	Het
Insyn2b	C	A	11: 34,352,936 (GRCm39)	S326Y	probably benign	Het
Kif15	T	A	9: 122,815,252 (GRCm39)	M194K	probably damaging	Het
Mael	G	T	1: 166,053,244 (GRCm39)	Q254K	probably benign	Het
Nek9	T	C	12: 85,361,322 (GRCm39)	D461G	probably benign	Het
Nlrp12	T	C	7: 3,281,825 (GRCm39)	N819S	probably benign	Het
Ntng1	T	A	3: 109,739,871 (GRCm39)	N390Y	probably damaging	Het
Or5g25	A	G	2: 85,478,434 (GRCm39)	I77T	probably benign	Het
P2ry14	C	T	3: 59,022,738 (GRCm39)	V250I	probably damaging	Het
Pcnx2	A	T	8: 126,485,987 (GRCm39)	D1870E	probably benign	Het
Phf2	T	A	13: 48,985,589 (GRCm39)	K64*	probably null	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Ppa2	A	G	3: 133,032,445 (GRCm39)	T97A	probably damaging	Het
Psd	G	A	19: 46,313,088 (GRCm39)		probably null	Het
Psg23	T	A	7: 18,348,668 (GRCm39)	E46D	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab11b	A	G	17: 33,967,976 (GRCm39)	Y74H	probably damaging	Het
Rfc3	A	T	5: 151,568,383 (GRCm39)	S194R	probably benign	Het
Sema4d	A	T	13: 51,864,037 (GRCm39)	I414N	probably damaging	Het
Serpinb1a	A	T	13: 33,031,437 (GRCm39)	D120E	probably damaging	Het
Spats2l	T	C	1: 57,985,458 (GRCm39)	S504P	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Sspo	G	T	6: 48,438,608 (GRCm39)	V1559L	probably benign	Het
Tas2r118	T	G	6: 23,969,912 (GRCm39)	I50L	possibly damaging	Het
Tdrd3	C	T	14: 87,743,788 (GRCm39)	Q573*	probably null	Het
Thoc2l	T	C	5: 104,667,835 (GRCm39)	S786P	possibly damaging	Het
Tlnrd1	G	A	7: 83,532,062 (GRCm39)	T123I	probably benign	Het
Tmem214	T	A	5: 31,033,714 (GRCm39)	L555H	probably damaging	Het
Tmprss12	T	A	15: 100,183,117 (GRCm39)	M153K	probably benign	Het
Tmprss9	G	A	10: 80,725,268 (GRCm39)	G410S	probably damaging	Het
Trpm6	T	A	19: 18,803,116 (GRCm39)	M853K	probably damaging	Het
Vmn1r35	A	G	6: 66,655,929 (GRCm39)	I247T	possibly damaging	Het
Zcchc7	C	A	4: 44,931,059 (GRCm39)	P404T	probably damaging	Het
Zzef1	T	C	11: 72,763,465 (GRCm39)	F1371L	probably benign	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
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'- ACAGCCCTATTACTGTATGGACATC -3'
(R):5'- CAAGGCAATGTGTGGGTTCG -3'

Sequencing Primer
(F):5'- ACTGTATGGACATCGTCGGCAG -3'
(R):5'- GAATGTGCATCTTCAGGGCAC -3'

Posted On

2014-09-18