Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Unc5d'

406606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc5d

Ensembl Gene

ENSMUSG00000063626

Gene Name

unc-5 netrin receptor D

Synonyms

Unc5h4, D930029E11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

28646717-29219636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28652853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 857 (G857E)

Ref Sequence

ENSEMBL: ENSMUSP00000147306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]

AlphaFold

Q8K1S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000168630
AA Change: G929E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: G929E

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1cs6a2	52	146	5e-3	SMART
IGc2	169	236	2.66e-8	SMART
TSP1	253	304	2.29e-13	SMART
TSP1	309	358	6.33e-7	SMART
transmembrane domain	383	405	N/A	INTRINSIC
Pfam:ZU5	545	642	1.6e-33	PFAM
DEATH	850	941	4.77e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209401
AA Change: G855E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210298
AA Change: G848E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210785
AA Change: G911E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211448
AA Change: G857E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Unc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Unc5d	APN	8	28719826	missense	probably damaging	0.97
IGL00687:Unc5d	APN	8	28715813	splice site	probably benign
IGL00970:Unc5d	APN	8	28696428	missense	probably benign	0.15
IGL01992:Unc5d	APN	8	28652791	missense	probably damaging	0.98
IGL02024:Unc5d	APN	8	28652827	missense	probably benign	0.08
IGL02080:Unc5d	APN	8	28891288	splice site	probably null
IGL02902:Unc5d	APN	8	28875606	missense	probably damaging	1.00
R0071:Unc5d	UTSW	8	28719826	missense	possibly damaging	0.62
R0071:Unc5d	UTSW	8	28719826	missense	possibly damaging	0.62
R0761:Unc5d	UTSW	8	28696532	splice site	probably null
R0941:Unc5d	UTSW	8	28759027	missense	possibly damaging	0.85
R1086:Unc5d	UTSW	8	28875630	missense	possibly damaging	0.87
R1625:Unc5d	UTSW	8	28683206	missense	probably damaging	1.00
R1635:Unc5d	UTSW	8	28760749	missense	probably benign	0.14
R1682:Unc5d	UTSW	8	28759081	missense	probably damaging	1.00
R1698:Unc5d	UTSW	8	28696478	missense	probably damaging	0.99
R2015:Unc5d	UTSW	8	28758979	missense	probably damaging	1.00
R2132:Unc5d	UTSW	8	28875529	missense	possibly damaging	0.50
R2174:Unc5d	UTSW	8	28694540	missense	probably damaging	0.99
R2210:Unc5d	UTSW	8	28761797	missense	probably damaging	0.97
R3684:Unc5d	UTSW	8	28694592	missense	probably damaging	1.00
R3734:Unc5d	UTSW	8	28761798	missense	probably benign	0.02
R4093:Unc5d	UTSW	8	28844837	missense	possibly damaging	0.87
R4287:Unc5d	UTSW	8	28719796	missense	probably benign	0.00
R4888:Unc5d	UTSW	8	28666899	missense	probably benign	0.02
R5000:Unc5d	UTSW	8	28715747	missense	possibly damaging	0.90
R5060:Unc5d	UTSW	8	28719695	missense	probably benign	0.00
R5076:Unc5d	UTSW	8	28694676	missense	possibly damaging	0.88
R5696:Unc5d	UTSW	8	28666842	missense	probably benign	0.06
R6024:Unc5d	UTSW	8	28875511	missense	possibly damaging	0.96
R6077:Unc5d	UTSW	8	28675307	missense	possibly damaging	0.94
R6259:Unc5d	UTSW	8	28666792	missense	probably benign	0.00
R6387:Unc5d	UTSW	8	28875526	nonsense	probably null
R7038:Unc5d	UTSW	8	28715721	critical splice donor site	probably null
R7577:Unc5d	UTSW	8	28891421	missense	probably damaging	1.00
R7641:Unc5d	UTSW	8	28719975	missense	probably damaging	1.00
R8175:Unc5d	UTSW	8	28844827	missense	probably damaging	1.00
R8426:Unc5d	UTSW	8	28719988	missense	probably damaging	1.00
R8465:Unc5d	UTSW	8	28666849	missense	probably damaging	1.00
R8748:Unc5d	UTSW	8	28696425	missense	probably benign	0.15
R9228:Unc5d	UTSW	8	28675420	missense	probably damaging	1.00
R9234:Unc5d	UTSW	8	28760849	missense	probably damaging	0.98
R9257:Unc5d	UTSW	8	28725146	critical splice donor site	probably null
R9338:Unc5d	UTSW	8	29219443	unclassified	probably benign
R9524:Unc5d	UTSW	8	28875611	missense	probably damaging	1.00
R9732:Unc5d	UTSW	8	28891291	critical splice donor site	probably null
R9738:Unc5d	UTSW	8	28724304	missense	probably benign	0.07
R9742:Unc5d	UTSW	8	28666764	critical splice donor site	probably null
R9743:Unc5d	UTSW	8	28719773	missense	possibly damaging	0.84
X0058:Unc5d	UTSW	8	28760730	missense	probably benign	0.12
X0060:Unc5d	UTSW	8	28694676	missense	possibly damaging	0.88
Z1176:Unc5d	UTSW	8	28759053	missense	probably damaging	1.00
Z1177:Unc5d	UTSW	8	28891308	missense	probably benign	0.03

Posted On

2016-08-02