Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Scai'

596301

Institutional Source

Beutler Lab

Gene Symbol

Scai

Ensembl Gene

ENSMUSG00000035236

Gene Name

suppressor of cancer cell invasion

Synonyms

A930041I02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.501) 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 (GRCm38)

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]

AlphaFold

Q8C8N2

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
R8856:Scai	UTSW	2	39106966	missense	probably benign	0.01
R8890:Scai	UTSW	2	39150388	intron	probably benign
R9040:Scai	UTSW	2	39075152	missense	probably benign	0.30

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