Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:Scai'

475967

Institutional Source

Beutler Lab

Gene Symbol

Scai

Ensembl Gene

ENSMUSG00000035236

Gene Name

suppressor of cancer cell invasion

Synonyms

A930041I02Rik

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R3237 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

38956226-39080746 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 39040326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038874] [ENSMUST00000142872] [ENSMUST00000147433] [ENSMUST00000204093] [ENSMUST00000204404]

AlphaFold

Q8C8N2

Predicted Effect

probably benign
Transcript: ENSMUST00000038874

SMART Domains

Protein: ENSMUSP00000037194
Gene: ENSMUSG00000035236

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142872

Predicted Effect

probably benign
Transcript: ENSMUST00000147433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203872

Predicted Effect

probably benign
Transcript: ENSMUST00000204093

SMART Domains

Protein: ENSMUSP00000145133
Gene: ENSMUSG00000035236

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204611

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Nsd1	T	A	13: 55,460,701 (GRCm39)	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rpn1	A	G	6: 88,080,396 (GRCm39)	K565R	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	Het

Other mutations in Scai

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Scai	APN	2	38,998,406 (GRCm39)	missense	probably damaging	1.00
IGL01366:Scai	APN	2	38,996,973 (GRCm39)	missense	probably benign	0.36
IGL01739:Scai	APN	2	38,984,803 (GRCm39)	splice site	probably benign
IGL02251:Scai	APN	2	38,989,429 (GRCm39)	missense	probably benign	0.01
IGL02274:Scai	APN	2	38,992,329 (GRCm39)	unclassified	probably benign
R0239:Scai	UTSW	2	38,965,054 (GRCm39)	missense	probably benign	0.00
R0239:Scai	UTSW	2	38,965,054 (GRCm39)	missense	probably benign	0.00
R0685:Scai	UTSW	2	38,993,749 (GRCm39)	missense	probably damaging	0.96
R0904:Scai	UTSW	2	38,965,164 (GRCm39)	missense	possibly damaging	0.90
R1655:Scai	UTSW	2	38,970,129 (GRCm39)	missense	possibly damaging	0.79
R1820:Scai	UTSW	2	38,996,990 (GRCm39)	missense	possibly damaging	0.82
R1913:Scai	UTSW	2	38,970,093 (GRCm39)	missense	probably damaging	1.00
R2068:Scai	UTSW	2	39,013,025 (GRCm39)	missense	probably damaging	1.00
R2183:Scai	UTSW	2	38,970,138 (GRCm39)	missense	probably benign	0.00
R3933:Scai	UTSW	2	38,965,064 (GRCm39)	missense	probably benign	0.44
R5460:Scai	UTSW	2	38,973,586 (GRCm39)	missense	probably damaging	1.00
R5460:Scai	UTSW	2	38,973,585 (GRCm39)	missense	probably damaging	1.00
R6089:Scai	UTSW	2	38,973,566 (GRCm39)	nonsense	probably null
R6377:Scai	UTSW	2	38,992,340 (GRCm39)	missense	probably benign	0.02
R6606:Scai	UTSW	2	38,965,147 (GRCm39)	missense	probably benign	0.00
R7034:Scai	UTSW	2	39,011,147 (GRCm39)	missense	probably damaging	1.00
R7037:Scai	UTSW	2	39,080,633 (GRCm39)	missense	probably benign	0.04
R7171:Scai	UTSW	2	38,996,948 (GRCm39)	missense	possibly damaging	0.48
R7451:Scai	UTSW	2	39,015,148 (GRCm39)	missense	probably damaging	1.00
R7737:Scai	UTSW	2	39,013,034 (GRCm39)	missense	probably damaging	0.96
R8856:Scai	UTSW	2	38,996,978 (GRCm39)	missense	probably benign	0.01
R8890:Scai	UTSW	2	39,040,400 (GRCm39)	intron	probably benign
R9040:Scai	UTSW	2	38,965,164 (GRCm39)	missense	probably benign	0.30

Predicted Primers

Posted On

2017-05-11