Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Scrib'

514287

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6351 (G1)

Quality Score

171.009

Status

Validated

Chromosome

Chromosomal Location

75919011-75941633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75936835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 399 (Q399H)

Ref Sequence

ENSEMBL: ENSMUSP00000105572 (fasta)

Gene Model

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

AlphaFold

Q80U72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002603
AA Change: Q399H

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: Q399H

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: Q399H

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: Q399H

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

possibly damaging
Transcript: ENSMUST00000109946
AA Change: Q399H

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: Q399H

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

Meta Mutation Damage Score

0.1149

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	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
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'- CATCACTACAGCTCTCTGAGGGAC -3'
(R):5'- TGAGCTGCACGTGCTTGATG -3'

Sequencing Primer
(F):5'- AGCTCTCTGAGGGACTGCTC -3'
(R):5'- CACGTGCTTGATGTGGCTG -3'

Posted On

2018-04-27