Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02080:Unc5d'

186101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc5d

Ensembl Gene

ENSMUSG00000063626

Gene Name

unc-5 netrin receptor D

Synonyms

D930029E11Rik, Unc5h4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL02080

Quality Score

Status

Chromosome

Chromosomal Location

29136745-29709664 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 29381316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147306 (fasta)

Gene Model

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

AlphaFold

Q8K1S2

Predicted Effect

probably null
Transcript: ENSMUST00000168630

SMART Domains

Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626

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 null
Transcript: ENSMUST00000209401

Predicted Effect

probably null
Transcript: ENSMUST00000210298

Predicted Effect

probably null
Transcript: ENSMUST00000210785

Predicted Effect

probably null
Transcript: ENSMUST00000211448

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd33	A	G	7: 43,178,274 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnajc1	A	G	2: 18,321,159 (GRCm39)		probably benign	Het
Dpysl2	A	T	14: 67,067,394 (GRCm39)	D172E	probably benign	Het
Fbxw28	A	G	9: 109,168,641 (GRCm39)	L17P	probably damaging	Het
Gprin3	C	A	6: 59,331,176 (GRCm39)	R377M	possibly damaging	Het
Hectd4	T	A	5: 121,504,669 (GRCm39)		probably benign	Het
Kif26a	G	T	12: 112,124,000 (GRCm39)	A202S	probably damaging	Het
Lrig2	A	T	3: 104,371,440 (GRCm39)	D754E	probably damaging	Het
Lrit2	A	G	14: 36,791,031 (GRCm39)	K237E	probably damaging	Het
Med13	A	G	11: 86,174,638 (GRCm39)	V1729A	probably damaging	Het
Mon2	A	G	10: 122,888,095 (GRCm39)	S100P	probably damaging	Het
Mrnip	A	G	11: 50,088,502 (GRCm39)	D166G	probably benign	Het
Or1s2	T	C	19: 13,758,846 (GRCm39)	F288S	probably damaging	Het
Or4k1	A	T	14: 50,377,579 (GRCm39)	N172K	probably damaging	Het
Pkd1l1	T	A	11: 8,911,345 (GRCm39)	N311Y	unknown	Het
Ppara	A	G	15: 85,673,220 (GRCm39)	D137G	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Scube2	A	G	7: 109,451,685 (GRCm39)	F156S	probably damaging	Het
Setd2	T	G	9: 110,376,518 (GRCm39)		probably null	Het
Slc24a2	A	G	4: 87,145,383 (GRCm39)	C224R	probably damaging	Het
Snrnp48	A	G	13: 38,400,466 (GRCm39)	D191G	probably damaging	Het
Spo11	A	G	2: 172,831,188 (GRCm39)	Y266C	probably damaging	Het
Tmem144	G	A	3: 79,730,066 (GRCm39)		probably benign	Het
Tsacc	A	T	3: 88,202,696 (GRCm39)		probably null	Het
Unc79	A	G	12: 102,968,234 (GRCm39)	I153M	probably damaging	Het
Vgll4	A	G	6: 114,839,759 (GRCm39)	C178R	probably damaging	Het
Vmn2r90	T	A	17: 17,933,120 (GRCm39)	S227T	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Unc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Unc5d	APN	8	29,209,854 (GRCm39)	missense	probably damaging	0.97
IGL00687:Unc5d	APN	8	29,205,841 (GRCm39)	splice site	probably benign
IGL00970:Unc5d	APN	8	29,186,456 (GRCm39)	missense	probably benign	0.15
IGL01992:Unc5d	APN	8	29,142,819 (GRCm39)	missense	probably damaging	0.98
IGL02024:Unc5d	APN	8	29,142,855 (GRCm39)	missense	probably benign	0.08
IGL02902:Unc5d	APN	8	29,365,634 (GRCm39)	missense	probably damaging	1.00
IGL02982:Unc5d	APN	8	29,142,881 (GRCm39)	missense	probably damaging	1.00
R0071:Unc5d	UTSW	8	29,209,854 (GRCm39)	missense	possibly damaging	0.62
R0071:Unc5d	UTSW	8	29,209,854 (GRCm39)	missense	possibly damaging	0.62
R0761:Unc5d	UTSW	8	29,186,560 (GRCm39)	splice site	probably null
R0941:Unc5d	UTSW	8	29,249,055 (GRCm39)	missense	possibly damaging	0.85
R1086:Unc5d	UTSW	8	29,365,658 (GRCm39)	missense	possibly damaging	0.87
R1625:Unc5d	UTSW	8	29,173,234 (GRCm39)	missense	probably damaging	1.00
R1635:Unc5d	UTSW	8	29,250,777 (GRCm39)	missense	probably benign	0.14
R1682:Unc5d	UTSW	8	29,249,109 (GRCm39)	missense	probably damaging	1.00
R1698:Unc5d	UTSW	8	29,186,506 (GRCm39)	missense	probably damaging	0.99
R2015:Unc5d	UTSW	8	29,249,007 (GRCm39)	missense	probably damaging	1.00
R2132:Unc5d	UTSW	8	29,365,557 (GRCm39)	missense	possibly damaging	0.50
R2174:Unc5d	UTSW	8	29,184,568 (GRCm39)	missense	probably damaging	0.99
R2210:Unc5d	UTSW	8	29,251,825 (GRCm39)	missense	probably damaging	0.97
R3684:Unc5d	UTSW	8	29,184,620 (GRCm39)	missense	probably damaging	1.00
R3734:Unc5d	UTSW	8	29,251,826 (GRCm39)	missense	probably benign	0.02
R4093:Unc5d	UTSW	8	29,334,865 (GRCm39)	missense	possibly damaging	0.87
R4287:Unc5d	UTSW	8	29,209,824 (GRCm39)	missense	probably benign	0.00
R4888:Unc5d	UTSW	8	29,156,927 (GRCm39)	missense	probably benign	0.02
R5000:Unc5d	UTSW	8	29,205,775 (GRCm39)	missense	possibly damaging	0.90
R5060:Unc5d	UTSW	8	29,209,723 (GRCm39)	missense	probably benign	0.00
R5076:Unc5d	UTSW	8	29,184,704 (GRCm39)	missense	possibly damaging	0.88
R5696:Unc5d	UTSW	8	29,156,870 (GRCm39)	missense	probably benign	0.06
R6024:Unc5d	UTSW	8	29,365,539 (GRCm39)	missense	possibly damaging	0.96
R6077:Unc5d	UTSW	8	29,165,335 (GRCm39)	missense	possibly damaging	0.94
R6259:Unc5d	UTSW	8	29,156,820 (GRCm39)	missense	probably benign	0.00
R6387:Unc5d	UTSW	8	29,365,554 (GRCm39)	nonsense	probably null
R7038:Unc5d	UTSW	8	29,205,749 (GRCm39)	critical splice donor site	probably null
R7577:Unc5d	UTSW	8	29,381,449 (GRCm39)	missense	probably damaging	1.00
R7641:Unc5d	UTSW	8	29,210,003 (GRCm39)	missense	probably damaging	1.00
R8175:Unc5d	UTSW	8	29,334,855 (GRCm39)	missense	probably damaging	1.00
R8426:Unc5d	UTSW	8	29,210,016 (GRCm39)	missense	probably damaging	1.00
R8465:Unc5d	UTSW	8	29,156,877 (GRCm39)	missense	probably damaging	1.00
R8748:Unc5d	UTSW	8	29,186,453 (GRCm39)	missense	probably benign	0.15
R9228:Unc5d	UTSW	8	29,165,448 (GRCm39)	missense	probably damaging	1.00
R9234:Unc5d	UTSW	8	29,250,877 (GRCm39)	missense	probably damaging	0.98
R9257:Unc5d	UTSW	8	29,215,174 (GRCm39)	critical splice donor site	probably null
R9338:Unc5d	UTSW	8	29,709,471 (GRCm39)	unclassified	probably benign
R9524:Unc5d	UTSW	8	29,365,639 (GRCm39)	missense	probably damaging	1.00
R9732:Unc5d	UTSW	8	29,381,319 (GRCm39)	critical splice donor site	probably null
R9738:Unc5d	UTSW	8	29,214,332 (GRCm39)	missense	probably benign	0.07
R9742:Unc5d	UTSW	8	29,156,792 (GRCm39)	critical splice donor site	probably null
R9743:Unc5d	UTSW	8	29,209,801 (GRCm39)	missense	possibly damaging	0.84
X0058:Unc5d	UTSW	8	29,250,758 (GRCm39)	missense	probably benign	0.12
X0060:Unc5d	UTSW	8	29,184,704 (GRCm39)	missense	possibly damaging	0.88
Z1176:Unc5d	UTSW	8	29,249,081 (GRCm39)	missense	probably damaging	1.00
Z1177:Unc5d	UTSW	8	29,381,336 (GRCm39)	missense	probably benign	0.03

Posted On

2014-05-07