Mutagenetix > Incidental Mutation

Incidental Mutation 'R9457:Scrib'

714681

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9457 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75919011-75941633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75939148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 146 (D146G)

Ref Sequence

ENSEMBL: ENSMUSP00000002603 (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

probably damaging
Transcript: ENSMUST00000002603
AA Change: D146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: D146G

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: D146G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: D146G

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: D146G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: D146G

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

probably benign
Transcript: ENSMUST00000227316

Predicted Effect

probably benign
Transcript: ENSMUST00000230924

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	T	C	10: 115,414,236 (GRCm39)	L54P	unknown	Het
Ablim3	A	G	18: 61,978,920 (GRCm39)	S204P	probably benign	Het
Acadl	A	G	1: 66,892,400 (GRCm39)	V141A	probably benign	Het
Ace3	A	G	11: 105,885,687 (GRCm39)	D31G	probably benign	Het
Acte1	T	C	7: 143,437,713 (GRCm39)	V137A	possibly damaging	Het
Adam11	T	G	11: 102,660,724 (GRCm39)	V85G	probably benign	Het
Adarb1	A	T	10: 77,157,982 (GRCm39)	M155K	possibly damaging	Het
Arhgap10	G	A	8: 78,111,415 (GRCm39)	T376M	probably benign	Het
Bod1l	G	T	5: 41,979,310 (GRCm39)	T668K	probably damaging	Het
Ccdc87	A	G	19: 4,891,659 (GRCm39)	E717G	probably damaging	Het
Cdh17	T	A	4: 11,771,329 (GRCm39)	I37N	probably damaging	Het
Cfap99	T	G	5: 34,458,741 (GRCm39)	F45L	probably benign	Het
Chsy1	C	A	7: 65,822,148 (GRCm39)	H794Q	probably benign	Het
Clec4a3	G	A	6: 122,931,045 (GRCm39)	V45I	probably benign	Het
Clic3	G	A	2: 25,347,730 (GRCm39)	V32I	probably benign	Het
Clip2	A	T	5: 134,531,584 (GRCm39)	D740E	probably benign	Het
Col5a2	C	T	1: 45,426,004 (GRCm39)	V1062I	probably benign	Het
Col5a2	A	G	1: 45,431,973 (GRCm39)		probably null	Het
Cyp2j11	C	T	4: 96,195,596 (GRCm39)	V367I	probably damaging	Het
Ddr1	C	T	17: 35,993,650 (GRCm39)	A821T	possibly damaging	Het
Dna2	G	A	10: 62,786,572 (GRCm39)	E107K	probably benign	Het
Eif3d	A	G	15: 77,843,894 (GRCm39)	V484A	probably benign	Het
Fgfr4	A	G	13: 55,308,940 (GRCm39)	T354A	probably benign	Het
Fkbp6	T	C	5: 135,378,486 (GRCm39)	D54G	probably benign	Het
Gm4787	T	A	12: 81,426,020 (GRCm39)	E46V	probably damaging	Het
Gm47995	A	G	1: 151,074,226 (GRCm39)	T10A	possibly damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Gphb5	A	T	12: 75,462,523 (GRCm39)	V22D	probably damaging	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Hmces	T	C	6: 87,910,256 (GRCm39)	V222A	possibly damaging	Het
Kat14	T	A	2: 144,215,702 (GRCm39)	D62E	probably benign	Het
Kcnmb2	T	A	3: 32,236,018 (GRCm39)	V89E	probably benign	Het
Kif23	T	A	9: 61,851,507 (GRCm39)	N63I	probably benign	Het
Lamc2	T	C	1: 153,015,600 (GRCm39)	M578V	probably benign	Het
Ltbp2	A	T	12: 84,835,927 (GRCm39)	C1335S	probably benign	Het
Lyst	A	G	13: 13,862,330 (GRCm39)	E2622G	possibly damaging	Het
Mctp1	A	T	13: 76,532,793 (GRCm39)	H47L	probably benign	Het
Mical2	A	G	7: 112,010,665 (GRCm39)	K618R	probably damaging	Het
Mllt6	T	C	11: 97,556,586 (GRCm39)	I92T	probably benign	Het
Morc2a	A	G	11: 3,626,184 (GRCm39)	I223V	probably benign	Het
Msh3	A	T	13: 92,481,594 (GRCm39)	I306N	probably benign	Het
Myo3b	T	A	2: 69,925,553 (GRCm39)	S35T	probably benign	Het
Nfkbiz	A	T	16: 55,634,347 (GRCm39)	V700E	probably damaging	Het
Oit3	T	A	10: 59,277,505 (GRCm39)	M1L	unknown	Het
Or4c1	A	T	2: 89,133,075 (GRCm39)	I287N	probably damaging	Het
Or51l14	T	A	7: 103,100,618 (GRCm39)	F25I	probably benign	Het
Or8k17	A	T	2: 86,066,816 (GRCm39)	I114K	probably damaging	Het
Peg3	T	G	7: 6,710,998 (GRCm39)	D1408A	probably damaging	Het
Plaa	A	C	4: 94,475,120 (GRCm39)	S201R	possibly damaging	Het
Potefam1	A	T	2: 111,000,631 (GRCm39)	M196K	unknown	Het
Psmd5	A	G	2: 34,744,338 (GRCm39)	S395P	probably benign	Het
Ralgapa2	T	C	2: 146,176,474 (GRCm39)	I1701V	probably damaging	Het
Rmc1	A	G	18: 12,312,303 (GRCm39)	H181R	probably benign	Het
Rnf32	G	A	5: 29,411,184 (GRCm39)	A157T	probably damaging	Het
Rrad	T	A	8: 105,356,359 (GRCm39)		probably null	Het
Samm50	T	A	15: 84,092,042 (GRCm39)	L339Q	probably damaging	Het
Scin	T	C	12: 40,154,957 (GRCm39)	E212G	possibly damaging	Het
Slc19a1	G	A	10: 76,885,605 (GRCm39)	D502N	probably benign	Het
Slc4a4	T	C	5: 89,362,432 (GRCm39)	S839P	probably damaging	Het
Slc4a8	A	G	15: 100,704,141 (GRCm39)	D764G	probably damaging	Het
Slc6a19	G	A	13: 73,829,884 (GRCm39)	A590V	probably damaging	Het
Slfn8	G	T	11: 82,908,532 (GRCm39)	H4N	probably benign	Het
Smad9	T	A	3: 54,696,756 (GRCm39)	F274I	possibly damaging	Het
Snx4	A	G	16: 33,106,380 (GRCm39)	E271G	probably benign	Het
Spata31h1	A	G	10: 82,122,573 (GRCm39)	V3479A	probably benign	Het
Tektip1	C	A	10: 81,201,611 (GRCm39)	V4L	probably benign	Het
Thap4	G	A	1: 93,678,028 (GRCm39)	R253*	probably null	Het
Tmem65	T	A	15: 58,662,028 (GRCm39)	I144F		Het
Tnrc6a	G	A	7: 122,778,958 (GRCm39)	R1223Q	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,747,226 (GRCm39)	Y1424C	possibly damaging	Het
Trrap	T	A	5: 144,763,478 (GRCm39)	Y2457N	probably damaging	Het
Vmn1r7	A	G	6: 57,001,508 (GRCm39)	S251P	probably damaging	Het
Vmn2r89	A	T	14: 51,693,469 (GRCm39)	E273V	probably damaging	Het
Vps52	A	G	17: 34,181,156 (GRCm39)	D466G	probably damaging	Het
Xirp2	T	C	2: 67,345,976 (GRCm39)	V2739A	probably benign	Het
Zc3h4	C	T	7: 16,168,675 (GRCm39)	S1003F	unknown	Het
Zyg11a	A	T	4: 108,075,102 (GRCm39)	H6Q	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
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
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'- ATCTGCATGTGGCCACTCAG -3'
(R):5'- AAGTGTTAGCCCACAGTGC -3'

Sequencing Primer
(F):5'- AGCTCTACCTCTGCTGGGTG -3'
(R):5'- TAGCCCACAGTGCGGGTTG -3'

Posted On

2022-06-15