Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00232:Unc5c'

44745

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 #

IGL00232

Quality Score

Status

Chromosome

Chromosomal Location

141171360-141540685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141494701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 412 (I412T)

Ref Sequence

ENSEMBL: ENSMUSP00000118212 (fasta)

Gene Model

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

AlphaFold

O08747

Predicted Effect

probably damaging
Transcript: ENSMUST00000075282
AA Change: I412T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: I412T

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 damaging
Transcript: ENSMUST00000106236
AA Change: I393T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: I393T

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

noncoding transcript
Transcript: ENSMUST00000123631

Predicted Effect

probably damaging
Transcript: ENSMUST00000130636
AA Change: I338T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: I338T

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 damaging
Transcript: ENSMUST00000142762
AA Change: I412T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: I412T

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,950,581 (GRCm39)	Q1493K	probably benign	Het
Anapc1	A	T	2: 128,487,050 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,387,787 (GRCm39)		probably null	Het
Asz1	T	G	6: 18,055,541 (GRCm39)		probably null	Het
Atp6v0a4	G	A	6: 38,069,725 (GRCm39)	R56*	probably null	Het
Bend6	T	C	1: 33,922,619 (GRCm39)	D8G	possibly damaging	Het
Ccdc171	T	A	4: 83,600,561 (GRCm39)	C870*	probably null	Het
Cd163	A	G	6: 124,306,060 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,118,325 (GRCm39)	S1098P	probably damaging	Het
Col6a5	T	G	9: 105,759,882 (GRCm39)	D1946A	probably damaging	Het
Gm6576	T	A	15: 27,025,884 (GRCm39)		noncoding transcript	Het
Gypa	T	G	8: 81,231,408 (GRCm39)		probably benign	Het
Ighv9-3	T	C	12: 114,104,691 (GRCm39)		probably benign	Het
Itgb1	T	G	8: 129,440,399 (GRCm39)		probably benign	Het
Kctd15	A	T	7: 34,350,170 (GRCm39)		probably null	Het
Krtap13	A	C	16: 88,548,423 (GRCm39)	S22A	possibly damaging	Het
Masp1	C	T	16: 23,276,841 (GRCm39)	E555K	possibly damaging	Het
Med13l	T	A	5: 118,862,136 (GRCm39)	S360T	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd13a	A	G	19: 46,354,958 (GRCm39)	Y45C	probably damaging	Het
Neb	T	C	2: 52,125,568 (GRCm39)	D3662G	possibly damaging	Het
Nkx6-1	T	C	5: 101,807,371 (GRCm39)	D337G	possibly damaging	Het
Nlrc5	T	C	8: 95,211,251 (GRCm39)		probably null	Het
Palb2	T	C	7: 121,720,287 (GRCm39)	H468R	probably damaging	Het
Plscr1l1	C	T	9: 92,233,005 (GRCm39)	R43*	probably null	Het
Rai1	T	G	11: 60,076,217 (GRCm39)	Y94D	probably damaging	Het
Slc27a3	A	T	3: 90,292,748 (GRCm39)	Y605*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Trpm7	T	C	2: 126,670,951 (GRCm39)	E677G	possibly damaging	Het
Tstd2	A	T	4: 46,120,002 (GRCm39)		probably benign	Het

Other mutations in Unc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Unc5c	APN	3	141,523,963 (GRCm39)	splice site	probably benign
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

2013-06-11