Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Scrib'

55680

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76047158-76069784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76067553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 94 (I94V)

Ref Sequence

ENSEMBL: ENSMUSP00000105572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316] [ENSMUST00000230924]

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

possibly damaging
Transcript: ENSMUST00000002603
AA Change: I94V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: I94V

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

possibly damaging
Transcript: ENSMUST00000063747
AA Change: I94V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: I94V

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

possibly damaging
Transcript: ENSMUST00000109946
AA Change: I94V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: I94V

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

noncoding transcript
Transcript: ENSMUST00000227251

Predicted Effect

probably benign
Transcript: ENSMUST00000227316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229474

Predicted Effect

probably benign
Transcript: ENSMUST00000230924

Meta Mutation Damage Score

0.1306

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tle6	T	A	10: 81,594,346	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in Scrib

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Scrib	APN	15	76048794	missense	possibly damaging	0.49
IGL00905:Scrib	APN	15	76064990	missense	probably damaging	0.96
IGL01529:Scrib	APN	15	76049235	missense	possibly damaging	0.66
IGL01896:Scrib	APN	15	76066118	missense	possibly damaging	0.75
IGL01947:Scrib	APN	15	76061767	missense	probably benign	0.01
IGL02219:Scrib	APN	15	76065036	nonsense	probably null
IGL02372:Scrib	APN	15	76048255	missense	probably damaging	0.99
IGL02880:Scrib	APN	15	76066124	missense	probably damaging	1.00
IGL02959:Scrib	APN	15	76065207	missense	probably damaging	0.99
R0711:Scrib	UTSW	15	76066907	unclassified	probably benign
R0757:Scrib	UTSW	15	76062750	small deletion	probably benign
R0903:Scrib	UTSW	15	76066855	missense	possibly damaging	0.95
R0959:Scrib	UTSW	15	76051461	missense	probably benign	0.34
R1483:Scrib	UTSW	15	76057922	missense	probably damaging	1.00
R1551:Scrib	UTSW	15	76065162	missense	probably damaging	1.00
R1604:Scrib	UTSW	15	76048240	missense	probably damaging	0.97
R1613:Scrib	UTSW	15	76048542	missense	probably damaging	1.00
R1615:Scrib	UTSW	15	76066205	missense	probably benign	0.39
R1681:Scrib	UTSW	15	76064567	missense	probably damaging	1.00
R3110:Scrib	UTSW	15	76069374	missense	probably damaging	0.98
R3112:Scrib	UTSW	15	76069374	missense	probably damaging	0.98
R4050:Scrib	UTSW	15	76051473	missense	possibly damaging	0.91
R4660:Scrib	UTSW	15	76065336	missense	probably damaging	0.98
R4976:Scrib	UTSW	15	76051753	critical splice donor site	probably null
R5119:Scrib	UTSW	15	76051753	critical splice donor site	probably null
R5243:Scrib	UTSW	15	76065252	missense	probably benign	0.00
R5246:Scrib	UTSW	15	76064797	missense	probably benign	0.19
R5483:Scrib	UTSW	15	76067659	critical splice donor site	probably null
R5516:Scrib	UTSW	15	76062863	missense	possibly damaging	0.50
R5628:Scrib	UTSW	15	76049540	missense	possibly damaging	0.66
R5787:Scrib	UTSW	15	76059302	missense	probably damaging	1.00
R5894:Scrib	UTSW	15	76067732	missense	probably damaging	0.99
R6005:Scrib	UTSW	15	76057751	missense	probably damaging	1.00
R6041:Scrib	UTSW	15	76067172	missense	possibly damaging	0.93
R6351:Scrib	UTSW	15	76064986	missense	possibly damaging	0.65
R6603:Scrib	UTSW	15	76062723	missense	probably benign	0.00
R7298:Scrib	UTSW	15	76064761	missense	probably damaging	1.00
R7344:Scrib	UTSW	15	76049258	missense	probably damaging	1.00
R7428:Scrib	UTSW	15	76061198	missense	probably damaging	1.00
R7486:Scrib	UTSW	15	76057650	missense	probably damaging	1.00
R7764:Scrib	UTSW	15	76047393	makesense	probably null
R7994:Scrib	UTSW	15	76064582	missense	probably damaging	1.00
R8084:Scrib	UTSW	15	76066091	missense	probably benign	0.07
R8096:Scrib	UTSW	15	76062709	missense	probably benign
R8157:Scrib	UTSW	15	76059188	missense	possibly damaging	0.52
R8217:Scrib	UTSW	15	76067155	missense	probably damaging	0.99
R8693:Scrib	UTSW	15	76064505	missense	probably damaging	0.98
R8731:Scrib	UTSW	15	76063639	missense	probably benign
R8922:Scrib	UTSW	15	76061738	critical splice donor site	probably null
R9163:Scrib	UTSW	15	76049259	missense	probably damaging	1.00
R9457:Scrib	UTSW	15	76067299	missense	probably damaging	1.00
R9646:Scrib	UTSW	15	76060643	missense	probably damaging	1.00
Z1088:Scrib	UTSW	15	76048231	missense	probably damaging	0.99
Z1177:Scrib	UTSW	15	76057770	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCAAGGGGCACTCACTTGC -3'
(R):5'- AAGTTGGGCCTCAGTGACAACG -3'

Sequencing Primer
(F):5'- TAGCTGTGTGAAGCCATCC -3'
(R):5'- TCAGTGACAACGAGATCCAG -3'

Posted On

2013-07-11