Mutagenetix > Incidental Mutations

Incidental Mutation 'R7451:Scai'

577690

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: 0.599) question?

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39066214-39190734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39125136 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

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: T94A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236
AA Change: T94A

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: T94A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236
AA Change: T94A

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	T	11: 101,991,457	N147I	possibly damaging	Het
4932438A13Rik	G	T	3: 37,022,807		probably null	Het
Abcb6	A	G	1: 75,172,153	I794T	probably damaging	Het
Abcc5	T	A	16: 20,375,070	H767L	probably damaging	Het
Adgrb2	A	T	4: 130,014,557	M1031L	probably damaging	Het
Akna	T	A	4: 63,378,667	M891L	probably benign	Het
Aloxe3	C	A	11: 69,142,920	T620K	possibly damaging	Het
Amph	A	G	13: 19,077,368	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,628,948	I259V	probably benign	Het
Atp7b	C	T	8: 22,014,684	W652*	probably null	Het
Atp8a2	C	T	14: 59,791,181	D946N	probably null	Het
BC024063	T	A	10: 82,108,742	N65K	probably benign	Het
Bean1	A	T	8: 104,213,996	M154L	probably benign	Het
Cacna1c	C	T	6: 118,594,020	V2181M	unknown	Het
Cacna1g	A	G	11: 94,429,075	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,812,155		probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cfd	T	A	10: 79,891,528	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,033,790		probably null	Het
Chd9	T	A	8: 91,033,818	S2064T	probably benign	Het
Cpsf2	T	G	12: 102,000,792	V646G	possibly damaging	Het
Ctif	T	C	18: 75,519,803	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,699,740	E414D	probably benign	Het
Dagla	A	G	19: 10,253,355	V544A	probably damaging	Het
Dhx57	A	T	17: 80,247,113	V1228E	probably damaging	Het
Eif2b3	T	A	4: 117,052,796	L176*	probably null	Het
Fbxw26	T	A	9: 109,732,623	I168L	probably benign	Het
Flt3	T	A	5: 147,349,667	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558	P761L	probably benign	Het
Gabrd	A	G	4: 155,388,459	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,574,809	H98Q	probably benign	Het
Gli3	T	C	13: 15,726,291	V1421A	possibly damaging	Het
Gprin2	A	G	14: 34,195,805	S3P	probably damaging	Het
Ifi211	T	G	1: 173,899,492	D362A	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Lce1b	T	C	3: 92,655,900	S109G	unknown	Het
Lrp2	T	G	2: 69,513,333	E894A	probably damaging	Het
Mamdc4	A	G	2: 25,564,461	V1081A	possibly damaging	Het
Mcub	T	C	3: 129,917,103	S227G	possibly damaging	Het
Mki67	A	G	7: 135,699,351	I1318T	probably benign	Het
Mybl2	C	T	2: 163,072,706	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,352,188	H1441L	probably benign	Het
Nav2	T	A	7: 49,552,829		probably null	Het
Neb	C	T	2: 52,201,454	V5339I	probably benign	Het
Nktr	T	A	9: 121,729,656	S88T	probably damaging	Het
Nup155	C	T	15: 8,145,607	Q963*	probably null	Het
Oas1c	A	C	5: 120,802,142	L320V	possibly damaging	Het
Olfr108	C	A	17: 37,446,305	S261R	probably damaging	Het
Olfr1254	A	G	2: 89,789,109	M81T	probably benign	Het
Olfr1338	C	T	4: 118,753,687	A286T	probably benign	Het
Olfr149	G	A	9: 39,702,127	T214I	probably damaging	Het
Olfr325	A	G	11: 58,581,690	Y282C	probably damaging	Het
Olfr548-ps1	T	C	7: 102,542,254	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,716,004	S355G	possibly damaging	Het
Pde11a	C	T	2: 76,022,773	V834I	possibly damaging	Het
Pdzrn4	A	T	15: 92,770,067	D700V	possibly damaging	Het
Pif1	C	A	9: 65,588,348	P180Q	probably benign	Het
Pkig	G	T	2: 163,721,163	E5*	probably null	Het
Pla2r1	T	A	2: 60,535,002	M75L	probably damaging	Het
Pllp	T	C	8: 94,676,243	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,508,210	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,527,095	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,341,556	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,457,981	S635A	probably benign	Het
Ranbp17	A	T	11: 33,284,114		probably null	Het
Rce1	C	T	19: 4,625,053	G111D	probably damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rimbp2	C	T	5: 128,788,371	V631I	probably benign	Het
Sfmbt1	G	A	14: 30,816,811	A796T	probably benign	Het
Slc6a11	C	A	6: 114,245,683	Y546*	probably null	Het
Slc7a2	T	C	8: 40,912,649	S506P	probably damaging	Het
Synj2	T	A	17: 6,029,791	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,910,241	A236V	probably damaging	Het
Togaram1	T	A	12: 64,996,975	D1249E	probably damaging	Het
Trav17	A	T	14: 53,806,639	M1L	probably damaging	Het
Trim25	C	A	11: 89,015,737	A433D	possibly damaging	Het
Trim69	T	C	2: 122,168,027	F160S	probably benign	Het
Trio	A	T	15: 27,747,913	V1407E	probably benign	Het
Trpm7	A	T	2: 126,826,737	M753K	probably damaging	Het
Ttc12	G	T	9: 49,471,879	A75E	probably benign	Het
Uchl4	A	T	9: 64,235,731	I165L	probably benign	Het
Uvrag	A	T	7: 99,140,913	L13Q	unknown	Het
Wwc2	G	A	8: 47,864,575	R656W	not run	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
R7737:Scai	UTSW	2	39123022	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGAGCTAAGCAGACCTCACA -3'
(R):5'- GGAAAGTGTGTTCTGGTCTCTAGAA -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- CTGGTCTCTAGAATTATTTTTCC -3'

Posted On

2019-10-07