Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03279:Sema6a'

415513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sema6a

Ensembl Gene

ENSMUSG00000019647

Gene Name

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A

Synonyms

VIa, Semaq, Sema6A-1, sema, A730020P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03279

Quality Score

Status

Chromosome

Chromosomal Location

47378321-47504267 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 47433157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 91 (C91*)

Ref Sequence

ENSEMBL: ENSMUSP00000121442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019791] [ENSMUST00000076043] [ENSMUST00000115449] [ENSMUST00000126684] [ENSMUST00000135790] [ENSMUST00000156422]

AlphaFold

O35464

Predicted Effect

probably null
Transcript: ENSMUST00000019791
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Sema	56	487	1.06e-185	SMART
PSI	514	569	9.57e-1	SMART
transmembrane domain	648	670	N/A	INTRINSIC
low complexity region	932	951	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000076043
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Sema	56	487	1.06e-185	SMART
PSI	514	569	9.57e-1	SMART
transmembrane domain	593	615	N/A	INTRINSIC
low complexity region	877	896	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115449
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Sema	56	461	1.24e-168	SMART
PSI	488	543	9.57e-1	SMART
transmembrane domain	622	644	N/A	INTRINSIC
low complexity region	906	925	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000126684
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000118655
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Sema	56	216	2.5e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000135790
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Sema	56	487	1.06e-185	SMART
PSI	514	569	9.57e-1	SMART
transmembrane domain	665	687	N/A	INTRINSIC
low complexity region	949	968	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144223

Predicted Effect

probably null
Transcript: ENSMUST00000156422
AA Change: C91*

SMART Domains

Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
AA Change: C91*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Sema	56	487	1.06e-185	SMART
PSI	514	569	9.57e-1	SMART
transmembrane domain	648	670	N/A	INTRINSIC
low complexity region	932	951	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151382

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit defects in lamina-specific neurite stratification of specific retinal neuron subtypes and disruption of the dendritic plexus organization of On but not Off starburst amacrine cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	A	11: 119,904,504 (GRCm39)	D224V	probably damaging	Het
Abca4	C	A	3: 121,935,381 (GRCm39)	N1526K	probably benign	Het
Aif1	T	A	17: 35,390,523 (GRCm39)	K76*	probably null	Het
Arap2	A	G	5: 62,779,253 (GRCm39)	S1446P	probably damaging	Het
Cyb5rl	A	T	4: 106,941,325 (GRCm39)	E250V	possibly damaging	Het
Dock3	T	C	9: 106,788,447 (GRCm39)		probably benign	Het
Dppa2	A	G	16: 48,132,028 (GRCm39)	T42A	possibly damaging	Het
Drosha	C	T	15: 12,859,478 (GRCm39)	P562L	probably benign	Het
Egfl7	C	A	2: 26,480,719 (GRCm39)	H126N	probably benign	Het
Gm5852	T	C	3: 93,634,584 (GRCm39)		noncoding transcript	Het
Gpr161	T	C	1: 165,138,098 (GRCm39)	F228S	probably damaging	Het
Grid1	T	A	14: 34,667,722 (GRCm39)	M83K	probably damaging	Het
Gsdma2	T	C	11: 98,548,549 (GRCm39)	S434P	unknown	Het
Hao2	T	A	3: 98,787,712 (GRCm39)	N239I	possibly damaging	Het
Hsd17b14	A	T	7: 45,215,617 (GRCm39)	I206F	possibly damaging	Het
Kansl1l	A	T	1: 66,774,825 (GRCm39)	V667E	probably damaging	Het
Kdm3a	T	C	6: 71,588,659 (GRCm39)	D450G	probably benign	Het
Lmo7	C	A	14: 102,137,944 (GRCm39)	A882E	probably benign	Het
P4ha3	A	G	7: 99,949,893 (GRCm39)	Y254C	probably damaging	Het
Pcdh15	A	G	10: 74,152,904 (GRCm39)	Y408C	probably damaging	Het
Pglyrp3	T	C	3: 91,933,834 (GRCm39)	Y160H	probably damaging	Het
Pnma5	G	A	X: 72,079,605 (GRCm39)	T359I	probably benign	Het
Ptbp3	A	T	4: 59,476,937 (GRCm39)	H440Q	possibly damaging	Het
Rbx1	A	G	15: 81,352,399 (GRCm39)	N41S	probably damaging	Het
Rpl3	G	A	15: 79,962,560 (GRCm39)	T340I	probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Slco6d1	T	A	1: 98,394,405 (GRCm39)	V363E	probably damaging	Het
Stk38	A	G	17: 29,203,179 (GRCm39)		probably benign	Het
Tanc2	G	A	11: 105,803,918 (GRCm39)		probably null	Het
Thada	A	G	17: 84,742,988 (GRCm39)	F812S	probably benign	Het
Tubb4b-ps1	A	G	5: 7,229,630 (GRCm39)		probably benign	Het
Veph1	T	C	3: 66,162,443 (GRCm39)	T72A	probably damaging	Het
Vps52	T	A	17: 34,176,848 (GRCm39)	D67E	probably damaging	Het

Other mutations in Sema6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Sema6a	APN	18	47,423,042 (GRCm39)	critical splice donor site	probably null
IGL01351:Sema6a	APN	18	47,414,369 (GRCm39)	missense	possibly damaging	0.84
IGL01594:Sema6a	APN	18	47,381,884 (GRCm39)	missense	probably damaging	1.00
IGL01953:Sema6a	APN	18	47,423,187 (GRCm39)	nonsense	probably null
IGL02077:Sema6a	APN	18	47,416,465 (GRCm39)	missense	possibly damaging	0.94
IGL02632:Sema6a	APN	18	47,423,222 (GRCm39)	missense	probably damaging	1.00
IGL02957:Sema6a	APN	18	47,382,291 (GRCm39)	missense	probably damaging	1.00
IGL03013:Sema6a	APN	18	47,381,461 (GRCm39)	missense	probably benign	0.01
saphire	UTSW	18	47,439,496 (GRCm39)	nonsense	probably null
IGL02988:Sema6a	UTSW	18	47,431,281 (GRCm39)	missense	probably damaging	1.00
R0114:Sema6a	UTSW	18	47,423,244 (GRCm39)	missense	probably damaging	1.00
R0311:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0312:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0347:Sema6a	UTSW	18	47,424,196 (GRCm39)	missense	probably damaging	1.00
R0350:Sema6a	UTSW	18	47,403,785 (GRCm39)	missense	probably benign
R0366:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0368:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0391:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0403:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0466:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0515:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0517:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0542:Sema6a	UTSW	18	47,381,643 (GRCm39)	missense	probably damaging	1.00
R0557:Sema6a	UTSW	18	47,382,567 (GRCm39)	missense	probably benign	0.01
R0569:Sema6a	UTSW	18	47,403,872 (GRCm39)	splice site	probably null
R0650:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0689:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0694:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0726:Sema6a	UTSW	18	47,425,048 (GRCm39)	missense	probably damaging	1.00
R0741:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0821:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0824:Sema6a	UTSW	18	47,423,112 (GRCm39)	splice site	probably null
R0924:Sema6a	UTSW	18	47,381,559 (GRCm39)	missense	probably damaging	1.00
R1108:Sema6a	UTSW	18	47,439,498 (GRCm39)	missense	probably benign	0.02
R1255:Sema6a	UTSW	18	47,382,366 (GRCm39)	missense	probably damaging	0.98
R1422:Sema6a	UTSW	18	47,439,498 (GRCm39)	missense	probably benign	0.02
R1531:Sema6a	UTSW	18	47,382,066 (GRCm39)	missense	probably damaging	1.00
R1707:Sema6a	UTSW	18	47,416,512 (GRCm39)	missense	probably benign	0.04
R1746:Sema6a	UTSW	18	47,439,416 (GRCm39)	splice site	probably benign
R1807:Sema6a	UTSW	18	47,409,491 (GRCm39)	missense	possibly damaging	0.85
R1974:Sema6a	UTSW	18	47,403,696 (GRCm39)	missense	probably benign	0.04
R1987:Sema6a	UTSW	18	47,433,209 (GRCm39)	missense	probably damaging	1.00
R2044:Sema6a	UTSW	18	47,439,496 (GRCm39)	nonsense	probably null
R3719:Sema6a	UTSW	18	47,382,144 (GRCm39)	missense	probably damaging	1.00
R4491:Sema6a	UTSW	18	47,439,524 (GRCm39)	utr 5 prime	probably benign
R4552:Sema6a	UTSW	18	47,424,990 (GRCm39)	missense	probably damaging	1.00
R4707:Sema6a	UTSW	18	47,381,779 (GRCm39)	missense	probably benign	0.43
R4710:Sema6a	UTSW	18	47,403,750 (GRCm39)	missense	probably benign	0.00
R4713:Sema6a	UTSW	18	47,382,363 (GRCm39)	missense	possibly damaging	0.79
R4963:Sema6a	UTSW	18	47,431,318 (GRCm39)	missense	possibly damaging	0.48
R5088:Sema6a	UTSW	18	47,382,196 (GRCm39)	missense	probably damaging	1.00
R5133:Sema6a	UTSW	18	47,433,195 (GRCm39)	missense	probably damaging	1.00
R5135:Sema6a	UTSW	18	47,424,239 (GRCm39)	missense	probably damaging	1.00
R5141:Sema6a	UTSW	18	47,381,455 (GRCm39)	missense	probably damaging	1.00
R5277:Sema6a	UTSW	18	47,409,611 (GRCm39)	intron	probably benign
R5551:Sema6a	UTSW	18	47,381,595 (GRCm39)	missense	possibly damaging	0.76
R5618:Sema6a	UTSW	18	47,415,015 (GRCm39)	missense	probably damaging	0.98
R5717:Sema6a	UTSW	18	47,382,330 (GRCm39)	missense	probably benign	0.01
R5729:Sema6a	UTSW	18	47,414,410 (GRCm39)	missense	probably damaging	1.00
R5779:Sema6a	UTSW	18	47,381,893 (GRCm39)	missense	probably damaging	1.00
R5917:Sema6a	UTSW	18	47,414,405 (GRCm39)	missense	probably benign	0.05
R6054:Sema6a	UTSW	18	47,416,470 (GRCm39)	missense	possibly damaging	0.94
R6142:Sema6a	UTSW	18	47,414,266 (GRCm39)	missense	probably benign	0.00
R6209:Sema6a	UTSW	18	47,431,369 (GRCm39)	splice site	probably null
R6307:Sema6a	UTSW	18	47,382,231 (GRCm39)	missense	probably damaging	1.00
R6734:Sema6a	UTSW	18	47,412,236 (GRCm39)	missense	probably benign	0.31
R7014:Sema6a	UTSW	18	47,431,284 (GRCm39)	missense	probably damaging	1.00
R7033:Sema6a	UTSW	18	47,381,637 (GRCm39)	missense	probably damaging	0.96
R7574:Sema6a	UTSW	18	47,424,231 (GRCm39)	missense	probably damaging	1.00
R8054:Sema6a	UTSW	18	47,424,972 (GRCm39)	missense	probably damaging	1.00
R8250:Sema6a	UTSW	18	47,423,182 (GRCm39)	missense	probably damaging	0.99
R8408:Sema6a	UTSW	18	47,381,958 (GRCm39)	missense	probably benign	0.34
R8411:Sema6a	UTSW	18	47,382,022 (GRCm39)	missense	probably benign	0.00
R8900:Sema6a	UTSW	18	47,424,182 (GRCm39)	missense	probably damaging	1.00
R9140:Sema6a	UTSW	18	47,415,009 (GRCm39)	missense	probably benign
R9158:Sema6a	UTSW	18	47,431,330 (GRCm39)	missense	probably damaging	0.98
R9488:Sema6a	UTSW	18	47,437,216 (GRCm39)	missense	probably damaging	1.00
R9565:Sema6a	UTSW	18	47,382,594 (GRCm39)	missense	probably null	1.00
R9652:Sema6a	UTSW	18	47,382,252 (GRCm39)	missense	probably damaging	1.00
R9732:Sema6a	UTSW	18	47,381,925 (GRCm39)	missense	probably damaging	0.96
X0065:Sema6a	UTSW	18	47,416,386 (GRCm39)	missense	possibly damaging	0.78

Posted On

2016-08-02