Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00420:Strap'

5356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Strap

Ensembl Gene

ENSMUSG00000030224

Gene Name

serine/threonine kinase receptor associated protein

Synonyms

C78091, Unrip

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00420

Quality Score

Status

Chromosome

Chromosomal Location

137712080-137728928 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137722521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 219 (S219P)

Ref Sequence

ENSEMBL: ENSMUSP00000068267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064910]

AlphaFold

Q9Z1Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000064910
AA Change: S219P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068267
Gene: ENSMUSG00000030224
AA Change: S219P

Domain	Start	End	E-Value	Type
WD40	3	45	3.08e0	SMART
WD40	48	87	1.88e-4	SMART
WD40	90	128	2.38e-6	SMART
WD40	132	170	1.01e-4	SMART
WD40	173	210	1.27e2	SMART
WD40	213	251	3.99e-1	SMART
WD40	254	293	5.9e-11	SMART
low complexity region	324	336	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154698

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele die between E10.5 and E12.5 displaying defects in angiogenesis, cardiogenesis, somitogenesis, neural tube closure and embryonic turning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,931,078 (GRCm39)	S170T	probably benign	Het
Cep55	C	A	19: 38,061,887 (GRCm39)	Q443K	probably damaging	Het
Ces1c	T	C	8: 93,833,301 (GRCm39)	E388G	probably benign	Het
Chd9	T	C	8: 91,752,020 (GRCm39)	S1753P	possibly damaging	Het
Cse1l	T	A	2: 166,769,724 (GRCm39)	I343N	probably damaging	Het
Ctif	T	G	18: 75,570,247 (GRCm39)	M551L	possibly damaging	Het
Cyp2c29	A	G	19: 39,310,143 (GRCm39)		probably benign	Het
Filip1	G	A	9: 79,725,226 (GRCm39)	T1131I	probably damaging	Het
Gm13941	G	A	2: 110,922,193 (GRCm39)		probably benign	Het
Klc3	T	C	7: 19,130,220 (GRCm39)	E319G	possibly damaging	Het
Lonrf1	T	C	8: 36,697,231 (GRCm39)		probably benign	Het
Lrba	A	G	3: 86,267,089 (GRCm39)	E1593G	probably benign	Het
Mroh5	G	A	15: 73,664,638 (GRCm39)		probably benign	Het
Mthfr	T	A	4: 148,125,727 (GRCm39)	M20K	probably benign	Het
Nsd2	C	A	5: 34,040,347 (GRCm39)	N960K	possibly damaging	Het
Osgin1	T	A	8: 120,171,785 (GRCm39)	V193E	probably damaging	Het
Pced1a	A	T	2: 130,261,098 (GRCm39)	C420S	probably benign	Het
Pkd2l1	C	T	19: 44,146,075 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,186,498 (GRCm39)		probably null	Het
Prkg2	A	G	5: 99,172,400 (GRCm39)	V105A	probably benign	Het
Rab11fip3	A	G	17: 26,286,599 (GRCm39)	I518T	probably benign	Het
Rapgef5	T	A	12: 117,677,917 (GRCm39)	V150D	probably damaging	Het
Sema4c	A	G	1: 36,593,001 (GRCm39)		probably benign	Het
Slc27a2	A	G	2: 126,422,837 (GRCm39)	E354G	probably damaging	Het
Slc28a3	A	T	13: 58,722,114 (GRCm39)	L257I	probably benign	Het
Slc2a8	G	T	2: 32,863,636 (GRCm39)	Q469K	probably damaging	Het
Slc44a1	T	C	4: 53,553,550 (GRCm39)	V519A	possibly damaging	Het
Slco6d1	A	G	1: 98,359,955 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,950,967 (GRCm39)	I1636V	probably benign	Het
Tle1	G	A	4: 72,087,355 (GRCm39)	R126C	possibly damaging	Het
Traf3	T	A	12: 111,205,501 (GRCm39)	I94N	probably damaging	Het
Trps1	G	T	15: 50,710,266 (GRCm39)	T28K	probably benign	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Vapb	G	A	2: 173,619,964 (GRCm39)	V228M	probably benign	Het
Wdr3	A	T	3: 100,055,424 (GRCm39)	D506E	probably damaging	Het
Zfp119a	A	T	17: 56,172,792 (GRCm39)	C350*	probably null	Het
Zfp51	A	T	17: 21,683,714 (GRCm39)	M110L	probably benign	Het
Zfp687	G	A	3: 94,919,727 (GRCm39)	A15V	probably damaging	Het
Zkscan6	A	G	11: 65,719,287 (GRCm39)	T436A	possibly damaging	Het

Other mutations in Strap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Strap	APN	6	137,722,502 (GRCm39)	splice site	probably benign
IGL01937:Strap	APN	6	137,718,333 (GRCm39)	missense	probably benign	0.00
IGL01945:Strap	APN	6	137,718,333 (GRCm39)	missense	probably benign	0.00
R2175:Strap	UTSW	6	137,727,590 (GRCm39)	missense	probably benign
R3911:Strap	UTSW	6	137,712,380 (GRCm39)	missense	probably damaging	1.00
R4484:Strap	UTSW	6	137,726,334 (GRCm39)	intron	probably benign
R4669:Strap	UTSW	6	137,712,384 (GRCm39)	nonsense	probably null
R4875:Strap	UTSW	6	137,726,316 (GRCm39)	intron	probably benign
R7814:Strap	UTSW	6	137,718,976 (GRCm39)	missense	possibly damaging	0.73
R7887:Strap	UTSW	6	137,716,807 (GRCm39)	missense	possibly damaging	0.93
R8338:Strap	UTSW	6	137,718,976 (GRCm39)	missense	possibly damaging	0.73
R9018:Strap	UTSW	6	137,716,811 (GRCm39)	missense	probably benign
R9172:Strap	UTSW	6	137,718,365 (GRCm39)	missense	probably benign

Posted On

2012-04-20