Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Scrib'

188547

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1681 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

75919011-75941633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75936416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 480 (E480G)

Ref Sequence

ENSEMBL: ENSMUSP00000105572 (fasta)

Gene Model

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

AlphaFold

Q80U72

Predicted Effect

probably damaging
Transcript: ENSMUST00000002603
AA Change: E480G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: E480G

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: E480G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: E480G

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 damaging
Transcript: ENSMUST00000109946
AA Change: E480G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: E480G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,117,011 (GRCm39)	I247N	probably damaging	Het
Ankle1	G	T	8: 71,860,262 (GRCm39)	S260I	probably benign	Het
Aoc2	T	C	11: 101,216,018 (GRCm39)	S34P	probably benign	Het
Ap1m1	A	C	8: 73,009,966 (GRCm39)	I397L	possibly damaging	Het
Apba1	C	A	19: 23,913,925 (GRCm39)	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274 (GRCm39)	V25M	probably benign	Het
Arhgef18	G	A	8: 3,489,645 (GRCm39)	G326R	probably damaging	Het
Atm	A	C	9: 53,433,455 (GRCm39)	I265S	possibly damaging	Het
B3galt4	A	T	17: 34,170,187 (GRCm39)	V17E	probably benign	Het
Bcl7a	T	A	5: 123,494,086 (GRCm39)	M86K	possibly damaging	Het
Calhm6	A	G	10: 34,003,896 (GRCm39)	F4L	probably benign	Het
Cela3a	T	A	4: 137,129,995 (GRCm39)		probably null	Het
Cep85	T	A	4: 133,876,039 (GRCm39)	K456*	probably null	Het
Ces1f	C	A	8: 94,002,042 (GRCm39)	A29S	probably benign	Het
Chd9	A	T	8: 91,699,763 (GRCm39)	I598F	probably damaging	Het
Cntln	T	C	4: 84,865,872 (GRCm39)	L176S	probably damaging	Het
Cntn3	A	T	6: 102,147,629 (GRCm39)	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,003,832 (GRCm39)	S271P	probably damaging	Het
Col6a3	T	A	1: 90,701,224 (GRCm39)	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,462,765 (GRCm39)		probably null	Het
Dapk1	G	T	13: 60,866,278 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,363,872 (GRCm39)	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,129,643 (GRCm39)		probably null	Het
Eny2	T	C	15: 44,295,874 (GRCm39)	W42R	probably damaging	Het
Epha3	A	G	16: 63,416,091 (GRCm39)	V635A	probably damaging	Het
Fam167b	G	C	4: 129,472,069 (GRCm39)	Q34E	probably benign	Het
Fancm	T	C	12: 65,152,430 (GRCm39)	M962T	probably benign	Het
Gimap8	T	A	6: 48,633,345 (GRCm39)	I388N	probably benign	Het
Gpaa1	A	G	15: 76,215,653 (GRCm39)	T22A	probably benign	Het
Hoxc11	T	C	15: 102,863,591 (GRCm39)	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 93,863,906 (GRCm39)	N312S	unknown	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kank1	T	C	19: 25,387,668 (GRCm39)	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,279,958 (GRCm39)		probably null	Het
Klc4	A	T	17: 46,947,696 (GRCm39)	D335E	probably damaging	Het
Klhl33	T	A	14: 51,130,534 (GRCm39)	D320V	probably benign	Het
Krt73	A	T	15: 101,710,482 (GRCm39)	M84K	possibly damaging	Het
Kti12	T	A	4: 108,706,055 (GRCm39)	I323N	probably damaging	Het
Kynu	T	C	2: 43,569,837 (GRCm39)	L373P	probably damaging	Het
Lats1	T	C	10: 7,581,678 (GRCm39)	M821T	probably damaging	Het
Lnx1	A	T	5: 74,846,071 (GRCm39)	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,110,601 (GRCm39)	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,377,617 (GRCm39)	R87L	probably damaging	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,029,255 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,872,450 (GRCm39)	T966A	possibly damaging	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Nlrp1a	T	A	11: 71,033,184 (GRCm39)	E3D	unknown	Het
Nphs2	T	A	1: 156,148,468 (GRCm39)	D110E	probably damaging	Het
Nxn	T	A	11: 76,163,290 (GRCm39)	K244N	probably benign	Het
Oas3	A	T	5: 120,907,973 (GRCm39)	F322L	probably benign	Het
Obscn	T	A	11: 58,994,151 (GRCm39)	Y1577F	probably damaging	Het
Or10ag57	G	A	2: 87,218,964 (GRCm39)	R305K	possibly damaging	Het
Or8b47	T	A	9: 38,435,413 (GRCm39)	N128K	probably benign	Het
Or8b50	G	A	9: 38,518,244 (GRCm39)	G161D	probably damaging	Het
Or8b52	A	G	9: 38,576,616 (GRCm39)	Y175H	probably benign	Het
Or8d2	T	C	9: 38,759,809 (GRCm39)	M133T	probably damaging	Het
Panx1	T	C	9: 14,919,079 (GRCm39)	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,606,866 (GRCm39)	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,296,968 (GRCm39)	V461F	probably damaging	Het
Plpp3	G	A	4: 105,066,002 (GRCm39)		probably null	Het
Prtn3	A	T	10: 79,716,375 (GRCm39)	T61S	probably benign	Het
Psen1	T	A	12: 83,771,394 (GRCm39)	Y225N	probably damaging	Het
Rab44	T	A	17: 29,359,098 (GRCm39)	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,809,388 (GRCm39)	I462M	probably benign	Het
Rbfox3	T	C	11: 118,396,495 (GRCm39)	N105S	probably damaging	Het
Rbm7	A	C	9: 48,401,021 (GRCm39)	Y236D	possibly damaging	Het
Samhd1	T	C	2: 156,943,652 (GRCm39)	T621A	probably benign	Het
Samt3	C	A	X: 85,090,256 (GRCm39)	D49E	probably benign	Het
Sass6	T	C	3: 116,397,122 (GRCm39)	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,633,478 (GRCm39)	M418I	possibly damaging	Het
Sec24a	T	G	11: 51,586,016 (GRCm39)	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,058,365 (GRCm39)	E84A	probably benign	Het
Slc6a17	C	T	3: 107,381,702 (GRCm39)	V419I	probably damaging	Het
Ssr2	T	C	3: 88,488,349 (GRCm39)	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,794,151 (GRCm39)	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,259,140 (GRCm39)		probably null	Het
Tll1	A	C	8: 64,538,585 (GRCm39)	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,759,342 (GRCm39)	P712S	probably damaging	Het
Tmem145	T	A	7: 25,014,159 (GRCm39)	F424L	possibly damaging	Het
Tnrc18	T	C	5: 142,759,572 (GRCm39)	K755E	unknown	Het
Trmt44	A	G	5: 35,727,321 (GRCm39)	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,314,179 (GRCm39)	V184A	probably benign	Het
Zfp84	T	C	7: 29,476,825 (GRCm39)	C506R	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
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
R4660:Scrib	UTSW	15	75,937,185 (GRCm39)	missense	probably damaging	0.98
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'- TGCAGTCCCAGATCCATTCACCAG -3'
(R):5'- AGCCGTGTCAGTGTCATCCAGTTC -3'

Sequencing Primer
(F):5'- AGATCCATTCACCAGCTCATCTG -3'
(R):5'- TGTCATCCAGTTCGAGGACAC -3'

Posted On

2014-05-09