Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Scrib'

477877

Institutional Source

Beutler Lab

Gene Symbol

Scrib

Ensembl Gene

ENSMUSG00000022568

Gene Name

scribbled planar cell polarity

Synonyms

Scrb1, Crc

MMRRC Submission

040585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3112 (G1)

Quality Score

122

Status

Not validated

Chromosome

Chromosomal Location

76047158-76069784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76069374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 5 (I5N)

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

probably damaging
Transcript: ENSMUST00000002603
AA Change: I5N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568
AA Change: I5N

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: I5N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568
AA Change: I5N

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

probably damaging
Transcript: ENSMUST00000109946
AA Change: I5N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568
AA Change: I5N

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230968

Meta Mutation Damage Score

0.4301

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	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
R0605:Scrib	UTSW	15	76067553	missense	possibly damaging	0.89
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
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

Posted On

2017-05-15