Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01089:Unc5c'

50723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

141171360-141540685 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 141523963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]

AlphaFold

O08747

Predicted Effect

probably benign
Transcript: ENSMUST00000075282

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106236

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	377	399	N/A	INTRINSIC
ZU5	528	631	6.92e-63	SMART
low complexity region	676	685	N/A	INTRINSIC
DEATH	838	929	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130636

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
IGc2	105	172	2.72e-5	SMART
TSP1	189	240	8.54e-13	SMART
TSP1	245	294	1.18e-6	SMART
transmembrane domain	322	344	N/A	INTRINSIC
ZU5	473	576	6.92e-63	SMART
low complexity region	621	630	N/A	INTRINSIC
DEATH	783	874	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142762

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,710,292 (GRCm39)	L353S	probably damaging	Het
Adgrf2	G	A	17: 43,021,049 (GRCm39)	P592S	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,901,843 (GRCm39)		probably null	Het
Asnsd1	G	A	1: 53,387,436 (GRCm39)	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,270 (GRCm39)	M76T	probably damaging	Het
Clca3b	A	T	3: 144,529,283 (GRCm39)	V797D	probably benign	Het
Cog2	T	C	8: 125,271,982 (GRCm39)	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,771,097 (GRCm39)	Y94F	possibly damaging	Het
D630045J12Rik	A	G	6: 38,113,898 (GRCm39)	S1765P	probably benign	Het
Fam149a	A	G	8: 45,801,564 (GRCm39)	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,328,674 (GRCm39)	A695V	possibly damaging	Het
Fat1	T	A	8: 45,470,894 (GRCm39)	V1566E	probably damaging	Het
Flvcr1	T	G	1: 190,745,587 (GRCm39)	N361H	probably damaging	Het
Gm1110	T	C	9: 26,793,156 (GRCm39)	N540S	probably benign	Het
Katnip	A	G	7: 125,394,485 (GRCm39)	E187G	probably damaging	Het
Kcns3	T	A	12: 11,141,572 (GRCm39)	T376S	possibly damaging	Het
Krt32	A	G	11: 99,978,605 (GRCm39)	S150P	probably benign	Het
Liat1	A	G	11: 75,894,163 (GRCm39)	E180G	possibly damaging	Het
Lrtm2	C	T	6: 119,297,753 (GRCm39)	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,168,917 (GRCm39)	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363 (GRCm39)		probably null	Het
Or1j10	A	T	2: 36,267,178 (GRCm39)	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,619,184 (GRCm39)	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,347,265 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,462,284 (GRCm39)	V531A	probably benign	Het
Psmb2	A	G	4: 126,577,999 (GRCm39)	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286 (GRCm38)	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,096,419 (GRCm39)	V926D	possibly damaging	Het
Rgma	G	T	7: 73,059,462 (GRCm39)	V189L	possibly damaging	Het
Sbf2	A	T	7: 109,948,169 (GRCm39)	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,955,710 (GRCm39)	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,696,310 (GRCm39)	V896A	probably damaging	Het
Taf2	T	C	15: 54,879,977 (GRCm39)	M1120V	probably benign	Het
Ugt2b34	C	T	5: 87,054,185 (GRCm39)	V199I	probably benign	Het
Usp37	G	A	1: 74,532,205 (GRCm39)	R63*	probably null	Het

Other mutations in Unc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Unc5c	APN	3	141,494,701 (GRCm39)	missense	probably damaging	0.99
IGL01478:Unc5c	APN	3	141,534,212 (GRCm39)	missense	probably damaging	1.00
IGL02083:Unc5c	APN	3	141,420,408 (GRCm39)	missense	probably damaging	0.99
IGL02269:Unc5c	APN	3	141,494,743 (GRCm39)	missense	probably damaging	1.00
IGL02565:Unc5c	APN	3	141,509,680 (GRCm39)	missense	probably damaging	1.00
IGL02973:Unc5c	APN	3	141,494,651 (GRCm39)	missense	probably benign	0.12
R0179:Unc5c	UTSW	3	141,523,828 (GRCm39)	nonsense	probably null
R0309:Unc5c	UTSW	3	141,439,694 (GRCm39)	missense	probably benign	0.01
R0371:Unc5c	UTSW	3	141,533,283 (GRCm39)	missense	probably benign	0.01
R0603:Unc5c	UTSW	3	141,476,863 (GRCm39)	missense	probably damaging	1.00
R0904:Unc5c	UTSW	3	141,509,601 (GRCm39)	missense	probably benign	0.08
R0907:Unc5c	UTSW	3	141,494,794 (GRCm39)	missense	probably damaging	0.99
R1300:Unc5c	UTSW	3	141,534,304 (GRCm39)	missense	possibly damaging	0.94
R1491:Unc5c	UTSW	3	141,495,583 (GRCm39)	missense	probably damaging	1.00
R1494:Unc5c	UTSW	3	141,533,310 (GRCm39)	missense	possibly damaging	0.93
R1674:Unc5c	UTSW	3	141,463,598 (GRCm39)	missense	possibly damaging	0.74
R1676:Unc5c	UTSW	3	141,463,598 (GRCm39)	missense	possibly damaging	0.74
R1726:Unc5c	UTSW	3	141,523,864 (GRCm39)	missense	probably damaging	1.00
R1750:Unc5c	UTSW	3	141,533,278 (GRCm39)	missense	possibly damaging	0.89
R1815:Unc5c	UTSW	3	141,463,518 (GRCm39)	missense	probably damaging	1.00
R2381:Unc5c	UTSW	3	141,383,916 (GRCm39)	missense	probably damaging	1.00
R2394:Unc5c	UTSW	3	141,383,892 (GRCm39)	missense	probably damaging	1.00
R2945:Unc5c	UTSW	3	141,495,735 (GRCm39)	missense	probably damaging	0.97
R4284:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4285:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4287:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4681:Unc5c	UTSW	3	141,474,374 (GRCm39)	critical splice donor site	probably null
R4736:Unc5c	UTSW	3	141,522,692 (GRCm39)	missense	probably benign	0.00
R4740:Unc5c	UTSW	3	141,522,692 (GRCm39)	missense	probably benign	0.00
R4774:Unc5c	UTSW	3	141,534,278 (GRCm39)	missense	probably damaging	1.00
R4862:Unc5c	UTSW	3	141,495,534 (GRCm39)	missense	probably damaging	1.00
R4905:Unc5c	UTSW	3	141,507,071 (GRCm39)	missense	probably benign	0.19
R4921:Unc5c	UTSW	3	141,494,727 (GRCm39)	missense	probably damaging	1.00
R5150:Unc5c	UTSW	3	141,463,554 (GRCm39)	missense	probably damaging	1.00
R5559:Unc5c	UTSW	3	141,509,548 (GRCm39)	missense	probably damaging	1.00
R5562:Unc5c	UTSW	3	141,474,291 (GRCm39)	missense	probably damaging	1.00
R5643:Unc5c	UTSW	3	141,383,886 (GRCm39)	missense	probably damaging	1.00
R5644:Unc5c	UTSW	3	141,383,886 (GRCm39)	missense	probably damaging	1.00
R5775:Unc5c	UTSW	3	141,534,281 (GRCm39)	missense	probably damaging	1.00
R5912:Unc5c	UTSW	3	141,494,767 (GRCm39)	missense	probably damaging	1.00
R6154:Unc5c	UTSW	3	141,383,914 (GRCm39)	missense	probably damaging	0.97
R6547:Unc5c	UTSW	3	141,495,780 (GRCm39)	missense	probably benign	0.16
R6558:Unc5c	UTSW	3	141,495,490 (GRCm39)	missense	probably damaging	0.98
R7104:Unc5c	UTSW	3	141,439,665 (GRCm39)	missense	probably damaging	1.00
R7113:Unc5c	UTSW	3	141,507,054 (GRCm39)	missense	probably benign	0.00
R7282:Unc5c	UTSW	3	141,383,751 (GRCm39)	missense	probably damaging	0.98
R7317:Unc5c	UTSW	3	141,495,703 (GRCm39)	missense	probably benign	0.00
R7787:Unc5c	UTSW	3	141,474,313 (GRCm39)	missense	probably damaging	1.00
R7873:Unc5c	UTSW	3	141,533,310 (GRCm39)	missense	probably benign	0.04
R7896:Unc5c	UTSW	3	141,476,922 (GRCm39)	missense	possibly damaging	0.73
R7936:Unc5c	UTSW	3	141,534,238 (GRCm39)	missense	possibly damaging	0.48
R8041:Unc5c	UTSW	3	141,171,545 (GRCm39)	missense	possibly damaging	0.92
R8277:Unc5c	UTSW	3	141,474,373 (GRCm39)	critical splice donor site	probably null
R8669:Unc5c	UTSW	3	141,509,704 (GRCm39)	missense	possibly damaging	0.91
R8886:Unc5c	UTSW	3	141,509,581 (GRCm39)	missense	probably benign	0.02
R8989:Unc5c	UTSW	3	141,509,467 (GRCm39)	splice site	probably benign
R9244:Unc5c	UTSW	3	141,533,370 (GRCm39)	missense	probably benign	0.00
R9444:Unc5c	UTSW	3	141,507,209 (GRCm39)	critical splice donor site	probably null
R9508:Unc5c	UTSW	3	141,494,736 (GRCm39)	missense	possibly damaging	0.75
R9524:Unc5c	UTSW	3	141,494,683 (GRCm39)	missense	possibly damaging	0.56
R9633:Unc5c	UTSW	3	141,495,654 (GRCm39)	missense	probably damaging	0.99
X0018:Unc5c	UTSW	3	141,420,500 (GRCm39)	missense	probably damaging	1.00
X0065:Unc5c	UTSW	3	141,533,422 (GRCm39)	missense	probably damaging	1.00
Z1088:Unc5c	UTSW	3	141,439,661 (GRCm39)	missense	probably damaging	1.00
Z1176:Unc5c	UTSW	3	141,383,771 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21