Mutagenetix > Incidental Mutations

Incidental Mutation 'R7737:Scai'

596301

Institutional Source

Beutler Lab

Gene Symbol

Scai

Ensembl Gene

ENSMUSG00000035236

Gene Name

suppressor of cancer cell invasion

Synonyms

A930041I02Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R7737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39066214-39190734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39123022 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 132 (Q132L)

Ref Sequence

ENSEMBL: ENSMUSP00000037194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038874
AA Change: Q132L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: Q132L

Domain	Start	End	E-Value	Type
Pfam:DUF3550	64	557	6.1e-216	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147433

Predicted Effect

probably damaging
Transcript: ENSMUST00000204093
AA Change: Q132L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: Q132L

Domain	Start	End	E-Value	Type
Pfam:DUF3550	64	480	2.5e-177	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204404

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice of both sexes are sub-fertile owing to compromised meiotic synapsis and homologous recombination-mediated double-strand break DNA repair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	G	13: 66,433,677		probably null	Het
9530053A07Rik	T	A	7: 28,157,073	V2095E	probably damaging	Het
Adamts18	A	T	8: 113,736,934		probably null	Het
Akap3	T	A	6: 126,874,102	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,605,262	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,273,794	E493G	possibly damaging	Het
Armc4	A	G	18: 7,217,890	L608P	probably damaging	Het
Arvcf	G	A	16: 18,397,101	R119Q	probably damaging	Het
Asmt	T	C	X: 170,676,440	F228S	probably damaging	Het
Atp2c2	T	A	8: 119,742,395	V349E	probably damaging	Het
BC034090	A	G	1: 155,241,673	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,682,594	K85N	probably damaging	Het
Ccr6	G	A	17: 8,245,094		probably benign	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Ddb1	C	T	19: 10,625,974	A882V	possibly damaging	Het
Epha4	C	T	1: 77,381,012	G783D	probably damaging	Het
Ephb1	T	A	9: 101,984,103	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,701,263	Y93*	probably null	Het
Gak	A	C	5: 108,617,008	L84R	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gm5458	A	T	14: 19,599,737		probably null	Het
Gpatch3	C	G	4: 133,575,096	Q113E	probably benign	Het
Gpld1	C	A	13: 24,975,726	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,274,467	P234S	unknown	Het
Itga6	G	A	2: 71,822,443	V217I	probably benign	Het
Kdm7a	A	T	6: 39,144,404	N872K	probably benign	Het
Klhl14	G	T	18: 21,558,134	Y446*	probably null	Het
Larp4b	T	A	13: 9,170,643		probably null	Het
Lct	A	T	1: 128,298,693	W1320R	probably benign	Het
Lrp2	T	C	2: 69,496,438	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,815,446	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,581,185		probably null	Het
Mettl15	T	C	2: 109,137,378	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 40,003,278	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,135,381	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,302,786	Q803*	probably null	Het
Mtor	A	C	4: 148,538,738	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,887,923	Y2581F	unknown	Het
Myo7b	A	T	18: 32,014,204	Y95*	probably null	Het
Nf1	A	G	11: 79,545,488	I1985V	probably benign	Het
Noxred1	G	A	12: 87,221,362	Q332*	probably null	Het
Nudt21	A	T	8: 94,022,833	Y202N	probably damaging	Het
Olfr345	A	T	2: 36,640,620	I194F	probably benign	Het
Pik3c2a	A	T	7: 116,356,253	S1176T	probably damaging	Het
Pramef17	A	C	4: 143,991,956	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Rbmxl1	A	G	8: 78,505,623	S364P	unknown	Het
Rnf24	T	A	2: 131,303,496	K131N	probably benign	Het
Sh3tc1	T	C	5: 35,723,953	R49G	probably benign	Het
Slc12a7	A	G	13: 73,788,677	E152G	probably benign	Het
Slc22a27	A	T	19: 7,896,762	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,710	A427S	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Stk16	G	T	1: 75,211,351	C8F	probably damaging	Het
Syne2	T	C	12: 75,942,848	C1834R	probably damaging	Het
Tie1	C	T	4: 118,478,857		probably null	Het
Timp2	A	G	11: 118,303,895	I156T	probably damaging	Het
Tmem163	A	G	1: 127,491,610	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,639,668	M112L	probably benign	Het
Trank1	G	T	9: 111,366,012	E1035*	probably null	Het
Trim5	C	T	7: 104,279,564	V57M	probably damaging	Het
Ubr3	A	G	2: 69,991,566	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,669,707	S271R	probably damaging	Het
Xpo5	G	A	17: 46,236,090		probably null	Het
Zfp592	A	T	7: 81,025,193	H635L	probably damaging	Het
Zfp791	A	T	8: 85,112,215	N62K	probably benign	Het
Zmynd11	G	A	13: 9,695,139	T248M	probably damaging	Het

Other mutations in Scai

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Scai	APN	2	39108394	missense	probably damaging	1.00
IGL01366:Scai	APN	2	39106961	missense	probably benign	0.36
IGL01739:Scai	APN	2	39094791	splice site	probably benign
IGL02251:Scai	APN	2	39099417	missense	probably benign	0.01
IGL02274:Scai	APN	2	39102317	unclassified	probably benign
R0239:Scai	UTSW	2	39075042	missense	probably benign	0.00
R0239:Scai	UTSW	2	39075042	missense	probably benign	0.00
R0685:Scai	UTSW	2	39103737	missense	probably damaging	0.96
R0904:Scai	UTSW	2	39075152	missense	possibly damaging	0.90
R1655:Scai	UTSW	2	39080117	missense	possibly damaging	0.79
R1820:Scai	UTSW	2	39106978	missense	possibly damaging	0.82
R1913:Scai	UTSW	2	39080081	missense	probably damaging	1.00
R2068:Scai	UTSW	2	39123013	missense	probably damaging	1.00
R2183:Scai	UTSW	2	39080126	missense	probably benign	0.00
R3237:Scai	UTSW	2	39150314	splice site	probably benign
R3933:Scai	UTSW	2	39075052	missense	probably benign	0.44
R5460:Scai	UTSW	2	39083573	missense	probably damaging	1.00
R5460:Scai	UTSW	2	39083574	missense	probably damaging	1.00
R6089:Scai	UTSW	2	39083554	nonsense	probably null
R6377:Scai	UTSW	2	39102328	missense	probably benign	0.02
R6606:Scai	UTSW	2	39075135	missense	probably benign	0.00
R7034:Scai	UTSW	2	39121135	missense	probably damaging	1.00
R7037:Scai	UTSW	2	39190621	missense	probably benign	0.04
R7171:Scai	UTSW	2	39106936	missense	possibly damaging	0.48
R7451:Scai	UTSW	2	39125136	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACAGCTGACATGAAGAATACTGC -3'
(R):5'- CGTGACACAAATCAGTCAAGAG -3'

Sequencing Primer
(F):5'- CATCTATAGCTCACTGCCT -3'
(R):5'- TTCATGATCTTTGCTAATGAG -3'

Posted On

2019-11-26