Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Scrib'

352800

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75919011-75941633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75937185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 307 (S307L)

Ref Sequence

ENSEMBL: ENSMUSP00000105572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316]

AlphaFold

Q80U72

Predicted Effect

probably benign
Transcript: ENSMUST00000002599

SMART Domains

Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
RRM	118	191	1.21e-22	SMART
RRM	215	288	1.6e-22	SMART
low complexity region	290	338	N/A	INTRINSIC
low complexity region	400	420	N/A	INTRINSIC
RRM	451	533	7.68e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000002603
AA Change: S307L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: S307L

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1306	1321	N/A	INTRINSIC
coiled coil region	1390	1420	N/A	INTRINSIC
low complexity region	1452	1464	N/A	INTRINSIC
low complexity region	1498	1515	N/A	INTRINSIC
low complexity region	1549	1560	N/A	INTRINSIC
low complexity region	1648	1665	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063747
AA Change: S307L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: S307L

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1282	1293	N/A	INTRINSIC
coiled coil region	1362	1392	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1521	1532	N/A	INTRINSIC
low complexity region	1595	1612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100527

SMART Domains

Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
RRM	135	208	1.21e-22	SMART
RRM	232	305	1.6e-22	SMART
low complexity region	307	355	N/A	INTRINSIC
low complexity region	417	437	N/A	INTRINSIC
RRM	468	550	7.68e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109946
AA Change: S307L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: S307L

Domain	Start	End	E-Value	Type
LRR	58	80	1.99e0	SMART
LRR	81	104	2.54e2	SMART
LRR	127	149	3.56e2	SMART
LRR	150	172	2.33e1	SMART
LRR	173	195	2.45e0	SMART
LRR_TYP	196	218	7.78e-3	SMART
LRR	219	241	7.79e0	SMART
LRR	242	265	1.41e0	SMART
LRR	288	310	2.47e2	SMART
LRR_TYP	311	334	2.36e-2	SMART
LRR	335	356	7.8e1	SMART
LRR	357	380	1.22e2	SMART
low complexity region	455	466	N/A	INTRINSIC
low complexity region	502	511	N/A	INTRINSIC
coiled coil region	653	685	N/A	INTRINSIC
PDZ	722	801	2e-23	SMART
low complexity region	822	837	N/A	INTRINSIC
PDZ	856	936	1.23e-23	SMART
low complexity region	941	965	N/A	INTRINSIC
low complexity region	968	978	N/A	INTRINSIC
PDZ	998	1079	6.7e-25	SMART
PDZ	1095	1178	3.88e-21	SMART
low complexity region	1282	1293	N/A	INTRINSIC
coiled coil region	1362	1392	N/A	INTRINSIC
low complexity region	1424	1436	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1521	1532	N/A	INTRINSIC
low complexity region	1620	1637	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136390

SMART Domains

Protein: ENSMUSP00000119097
Gene: ENSMUSG00000022568

Domain	Start	End	E-Value	Type
PDZ	27	106	2e-23	SMART
low complexity region	127	142	N/A	INTRINSIC
PDZ	161	241	1.23e-23	SMART
low complexity region	246	270	N/A	INTRINSIC
low complexity region	273	283	N/A	INTRINSIC
PDZ	303	384	6.7e-25	SMART
PDZ	400	483	3.88e-21	SMART
low complexity region	611	626	N/A	INTRINSIC
coiled coil region	694	724	N/A	INTRINSIC
low complexity region	757	769	N/A	INTRINSIC
low complexity region	803	820	N/A	INTRINSIC
low complexity region	854	865	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185092

Predicted Effect

probably benign
Transcript: ENSMUST00000227316

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele display partial prenatal lethality. Mice homozygous for spontaneous or induced alleles exhibit craniofacial or neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,966,760 (GRCm39)	V145E	probably damaging	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Coch	T	C	12: 51,642,268 (GRCm39)	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Gpld1	T	C	13: 25,166,586 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Sec23ip	A	G	7: 128,352,010 (GRCm39)	S26G	probably null	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	probably damaging	Het

Other mutations in Scrib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Scrib	APN	15	75,920,643 (GRCm39)	missense	possibly damaging	0.49
IGL00905:Scrib	APN	15	75,936,839 (GRCm39)	missense	probably damaging	0.96
IGL01529:Scrib	APN	15	75,921,084 (GRCm39)	missense	possibly damaging	0.66
IGL01896:Scrib	APN	15	75,937,967 (GRCm39)	missense	possibly damaging	0.75
IGL01947:Scrib	APN	15	75,933,616 (GRCm39)	missense	probably benign	0.01
IGL02219:Scrib	APN	15	75,936,885 (GRCm39)	nonsense	probably null
IGL02372:Scrib	APN	15	75,920,104 (GRCm39)	missense	probably damaging	0.99
IGL02880:Scrib	APN	15	75,937,973 (GRCm39)	missense	probably damaging	1.00
IGL02959:Scrib	APN	15	75,937,056 (GRCm39)	missense	probably damaging	0.99
R0605:Scrib	UTSW	15	75,939,402 (GRCm39)	missense	possibly damaging	0.89
R0711:Scrib	UTSW	15	75,938,756 (GRCm39)	unclassified	probably benign
R0757:Scrib	UTSW	15	75,934,599 (GRCm39)	small deletion	probably benign
R0903:Scrib	UTSW	15	75,938,704 (GRCm39)	missense	possibly damaging	0.95
R0959:Scrib	UTSW	15	75,923,310 (GRCm39)	missense	probably benign	0.34
R1483:Scrib	UTSW	15	75,929,771 (GRCm39)	missense	probably damaging	1.00
R1551:Scrib	UTSW	15	75,937,011 (GRCm39)	missense	probably damaging	1.00
R1604:Scrib	UTSW	15	75,920,089 (GRCm39)	missense	probably damaging	0.97
R1613:Scrib	UTSW	15	75,920,391 (GRCm39)	missense	probably damaging	1.00
R1615:Scrib	UTSW	15	75,938,054 (GRCm39)	missense	probably benign	0.39
R1681:Scrib	UTSW	15	75,936,416 (GRCm39)	missense	probably damaging	1.00
R3110:Scrib	UTSW	15	75,941,223 (GRCm39)	missense	probably damaging	0.98
R3112:Scrib	UTSW	15	75,941,223 (GRCm39)	missense	probably damaging	0.98
R4050:Scrib	UTSW	15	75,923,322 (GRCm39)	missense	possibly damaging	0.91
R4976:Scrib	UTSW	15	75,923,602 (GRCm39)	critical splice donor site	probably null
R5119:Scrib	UTSW	15	75,923,602 (GRCm39)	critical splice donor site	probably null
R5243:Scrib	UTSW	15	75,937,101 (GRCm39)	missense	probably benign	0.00
R5246:Scrib	UTSW	15	75,936,646 (GRCm39)	missense	probably benign	0.19
R5483:Scrib	UTSW	15	75,939,508 (GRCm39)	critical splice donor site	probably null
R5516:Scrib	UTSW	15	75,934,712 (GRCm39)	missense	possibly damaging	0.50
R5628:Scrib	UTSW	15	75,921,389 (GRCm39)	missense	possibly damaging	0.66
R5787:Scrib	UTSW	15	75,931,151 (GRCm39)	missense	probably damaging	1.00
R5894:Scrib	UTSW	15	75,939,581 (GRCm39)	missense	probably damaging	0.99
R6005:Scrib	UTSW	15	75,929,600 (GRCm39)	missense	probably damaging	1.00
R6041:Scrib	UTSW	15	75,939,021 (GRCm39)	missense	possibly damaging	0.93
R6351:Scrib	UTSW	15	75,936,835 (GRCm39)	missense	possibly damaging	0.65
R6603:Scrib	UTSW	15	75,934,572 (GRCm39)	missense	probably benign	0.00
R7298:Scrib	UTSW	15	75,936,610 (GRCm39)	missense	probably damaging	1.00
R7344:Scrib	UTSW	15	75,921,107 (GRCm39)	missense	probably damaging	1.00
R7428:Scrib	UTSW	15	75,933,047 (GRCm39)	missense	probably damaging	1.00
R7486:Scrib	UTSW	15	75,929,499 (GRCm39)	missense	probably damaging	1.00
R7764:Scrib	UTSW	15	75,919,242 (GRCm39)	makesense	probably null
R7994:Scrib	UTSW	15	75,936,431 (GRCm39)	missense	probably damaging	1.00
R8084:Scrib	UTSW	15	75,937,940 (GRCm39)	missense	probably benign	0.07
R8096:Scrib	UTSW	15	75,934,558 (GRCm39)	missense	probably benign
R8157:Scrib	UTSW	15	75,931,037 (GRCm39)	missense	possibly damaging	0.52
R8217:Scrib	UTSW	15	75,939,004 (GRCm39)	missense	probably damaging	0.99
R8693:Scrib	UTSW	15	75,936,354 (GRCm39)	missense	probably damaging	0.98
R8731:Scrib	UTSW	15	75,935,488 (GRCm39)	missense	probably benign
R8922:Scrib	UTSW	15	75,933,587 (GRCm39)	critical splice donor site	probably null
R9163:Scrib	UTSW	15	75,921,108 (GRCm39)	missense	probably damaging	1.00
R9457:Scrib	UTSW	15	75,939,148 (GRCm39)	missense	probably damaging	1.00
R9646:Scrib	UTSW	15	75,932,492 (GRCm39)	missense	probably damaging	1.00
Z1088:Scrib	UTSW	15	75,920,080 (GRCm39)	missense	probably damaging	0.99
Z1177:Scrib	UTSW	15	75,929,619 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCAAGCACGTGCAGCTC -3'
(R):5'- CAGGATGTATGCTGTCCTTAAGG -3'

Sequencing Primer
(F):5'- TCAGCGGTATGGGCAAGCTC -3'
(R):5'- GTGCCAACTGGTTCTATGTCTAGATC -3'

Posted On

2015-10-08