Mutagenetix > Incidental Mutation

Incidental Mutation 'R2210:Stac'

239322

Institutional Source

Beutler Lab

Gene Symbol

Stac

Ensembl Gene

ENSMUSG00000032502

Gene Name

src homology three (SH3) and cysteine rich domain

Synonyms

MMRRC Submission

040212-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R2210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111390505-111519416 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111431638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 238 (P238S)

Ref Sequence

ENSEMBL: ENSMUSP00000035083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035083] [ENSMUST00000161995]

AlphaFold

P97306

Predicted Effect

probably damaging
Transcript: ENSMUST00000035083
AA Change: P238S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035083
Gene: ENSMUSG00000032502
AA Change: P238S

Domain	Start	End	E-Value	Type
low complexity region	78	93	N/A	INTRINSIC
C1	109	160	5.91e-13	SMART
low complexity region	213	232	N/A	INTRINSIC
SH3	289	344	3.45e-20	SMART
Pfam:SH3_2	349	401	6.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161995

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	C	G	5: 115,080,348 (GRCm39)	R28G	probably damaging	Het
Adgrb1	C	T	15: 74,419,553 (GRCm39)	A798V	probably damaging	Het
Ash1l	G	T	3: 88,973,605 (GRCm39)	D2555Y	probably damaging	Het
Atr	G	A	9: 95,789,353 (GRCm39)	R1503Q	probably damaging	Het
Cbln3	T	A	14: 56,121,383 (GRCm39)	I88F	possibly damaging	Het
Cct7	G	A	6: 85,436,212 (GRCm39)	G41D	probably damaging	Het
Cd1d2	G	T	3: 86,895,041 (GRCm39)	A138S	possibly damaging	Het
Dct	T	C	14: 118,280,561 (GRCm39)	I152V	probably benign	Het
Dgkq	C	A	5: 108,808,389 (GRCm39)	R58L	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Gm4884	A	T	7: 40,692,970 (GRCm39)	E313V	possibly damaging	Het
Hectd1	A	T	12: 51,853,245 (GRCm39)	I92K	probably damaging	Het
Icam1	A	G	9: 20,930,329 (GRCm39)	E61G	probably damaging	Het
Itgb2l	C	T	16: 96,227,421 (GRCm39)	V541M	possibly damaging	Het
Lmtk2	A	G	5: 144,084,427 (GRCm39)	E154G	probably damaging	Het
Majin	C	A	19: 6,272,728 (GRCm39)	H223N	possibly damaging	Het
Mc4r	A	T	18: 66,992,466 (GRCm39)	F216I	probably damaging	Het
Muc4	AG	AGG	16: 32,755,176 (GRCm38)		probably null	Het
Obscn	A	T	11: 58,958,913 (GRCm39)	V3379D	probably damaging	Het
Or8g30	A	T	9: 39,230,089 (GRCm39)	S274T	probably damaging	Het
Pde4b	A	T	4: 102,454,672 (GRCm39)	N346I	probably damaging	Het
Pitpnm1	T	C	19: 4,155,253 (GRCm39)	S331P	probably damaging	Het
Plcb2	T	A	2: 118,547,984 (GRCm39)	I437F	probably damaging	Het
Pramel14	T	A	4: 143,720,789 (GRCm39)	M51L	probably benign	Het
Prr12	A	G	7: 44,698,775 (GRCm39)		probably benign	Het
Pus7l	T	G	15: 94,438,173 (GRCm39)	D224A	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,782 (GRCm39)	S1007P	possibly damaging	Het
Tmem107	A	G	11: 68,962,096 (GRCm39)	E45G	possibly damaging	Het
Tmt1b	T	A	10: 128,794,591 (GRCm39)	K244N	probably damaging	Het
Triml2	T	C	8: 43,636,397 (GRCm39)	Y61H	probably damaging	Het
Uba2	T	C	7: 33,862,587 (GRCm39)	D95G	probably damaging	Het
Ube2d3	T	A	3: 135,168,802 (GRCm39)	D132E	probably benign	Het
Unc5d	A	G	8: 29,251,825 (GRCm39)	I216T	probably damaging	Het

Other mutations in Stac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Stac	APN	9	111,464,107 (GRCm39)	missense	probably damaging	1.00
IGL01870:Stac	APN	9	111,401,400 (GRCm39)	missense	probably benign	0.22
IGL02999:Stac	APN	9	111,433,198 (GRCm39)	missense	probably damaging	1.00
IGL03004:Stac	APN	9	111,431,608 (GRCm39)	missense	probably benign	0.00
R0240:Stac	UTSW	9	111,464,089 (GRCm39)	missense	probably damaging	0.99
R0240:Stac	UTSW	9	111,464,089 (GRCm39)	missense	probably damaging	0.99
R1777:Stac	UTSW	9	111,433,150 (GRCm39)	missense	possibly damaging	0.94
R2237:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R2238:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R2239:Stac	UTSW	9	111,519,190 (GRCm39)	start gained	probably benign
R4125:Stac	UTSW	9	111,433,126 (GRCm39)	critical splice donor site	probably null
R4126:Stac	UTSW	9	111,433,126 (GRCm39)	critical splice donor site	probably null
R4128:Stac	UTSW	9	111,433,126 (GRCm39)	critical splice donor site	probably null
R7069:Stac	UTSW	9	111,401,394 (GRCm39)	missense	possibly damaging	0.89
R8248:Stac	UTSW	9	111,422,813 (GRCm39)	missense	probably benign	0.01
R9030:Stac	UTSW	9	111,519,320 (GRCm39)	unclassified	probably benign
R9562:Stac	UTSW	9	111,401,411 (GRCm39)	missense	probably benign	0.00
X0057:Stac	UTSW	9	111,401,401 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TAAGCATTCTTATGGCCAGGAC -3'
(R):5'- GGTTGTGTATGCCCCTTAACC -3'

Sequencing Primer
(F):5'- TATGGCCAGGACTCTTGACCATG -3'
(R):5'- ATGCCCCTTAACCTGTGAATCAATG -3'

Posted On

2014-10-15