Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Scrib'

576278

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

045506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75919011-75941633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75933047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 721 (T721M)

Ref Sequence

ENSEMBL: ENSMUSP00000002603 (fasta)

Gene Model

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

AlphaFold

Q80U72

Predicted Effect

probably damaging
Transcript: ENSMUST00000002603
AA Change: T721M

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

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: T721M

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: T721M

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

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: T721M

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: T721M

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

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: T721M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,543 (GRCm39)	Y63F	probably benign	Het
Atl2	T	C	17: 80,183,227 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Cep295	A	G	9: 15,244,794 (GRCm39)	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,770,365 (GRCm39)	S1842G	probably benign	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Creb5	C	A	6: 53,658,143 (GRCm39)	Q158K	unknown	Het
Crtam	G	C	9: 40,892,478 (GRCm39)	A266G	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Ddit4l	A	G	3: 137,331,931 (GRCm39)	E99G	probably damaging	Het
Dmbt1	A	T	7: 130,710,192 (GRCm39)	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Leng8	C	T	7: 4,146,572 (GRCm39)	R395W	probably damaging	Het
Mocs2	A	G	13: 114,957,400 (GRCm39)	I6V	probably benign	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Myh13	A	G	11: 67,223,390 (GRCm39)	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup205	T	A	6: 35,204,494 (GRCm39)	I1460N	probably damaging	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Otof	G	T	5: 30,547,169 (GRCm39)	D383E	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pclo	A	T	5: 14,800,531 (GRCm39)	I1179F		Het
Pde6c	T	C	19: 38,145,984 (GRCm39)		probably null	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Prkg1	T	C	19: 30,556,235 (GRCm39)	I585M	probably damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Ptprd	G	A	4: 76,004,705 (GRCm39)	P17S	probably benign	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Sap30	C	T	8: 57,940,546 (GRCm39)	V19M	possibly damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,765,245 (GRCm39)	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Taar8c	A	C	10: 23,977,446 (GRCm39)	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965 (GRCm39)	P24S	probably benign	Het
Tex36	T	C	7: 133,196,866 (GRCm39)		probably null	Het
Tmem145	T	C	7: 25,006,590 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vars2	A	T	17: 35,977,578 (GRCm39)	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,463,022 (GRCm39)	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wnt9b	T	C	11: 103,621,643 (GRCm39)	Q338R	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Zfp541	A	T	7: 15,826,793 (GRCm39)	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,354,760 (GRCm39)	G190S	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	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
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'- ATCCTGCTTGATGACCACCC -3'
(R):5'- TTGTGCCTGCCCTTGAATG -3'

Sequencing Primer
(F):5'- TTGATGACCACCCGCTGAC -3'
(R):5'- CCCTTGAATGGCAGGAGC -3'

Posted On

2019-10-07