Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Sema6b'

633100

Institutional Source

Beutler Lab

Gene Symbol

Sema6b

Ensembl Gene

ENSMUSG00000001227

Gene Name

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

Synonyms

semaZ, Seman, VIb, Sema

MMRRC Submission

067583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56430085-56447343 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56435448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 265 (A265V)

Ref Sequence

ENSEMBL: ENSMUSP00000001256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000167545]

AlphaFold

O54951

Predicted Effect

probably damaging
Transcript: ENSMUST00000001256
AA Change: A265V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: A265V

Domain	Start	End	E-Value	Type
low complexity region	13	21	N/A	INTRINSIC
Sema	66	496	2.48e-177	SMART
PSI	527	581	4.09e-1	SMART
transmembrane domain	604	626	N/A	INTRINSIC
low complexity region	655	685	N/A	INTRINSIC
low complexity region	707	718	N/A	INTRINSIC
low complexity region	739	760	N/A	INTRINSIC
low complexity region	855	866	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167545
AA Change: A265V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: A265V

Domain	Start	End	E-Value	Type
low complexity region	13	21	N/A	INTRINSIC
Sema	66	496	2.48e-177	SMART
PSI	527	581	4.09e-1	SMART
transmembrane domain	604	626	N/A	INTRINSIC
low complexity region	655	685	N/A	INTRINSIC
low complexity region	707	718	N/A	INTRINSIC
low complexity region	739	760	N/A	INTRINSIC
low complexity region	855	866	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,155,361 (GRCm39)	R51W	probably damaging	Het
Adam3	A	G	8: 25,197,453 (GRCm39)	I326T	probably benign	Het
Alpk3	A	G	7: 80,743,470 (GRCm39)	K1096E	probably benign	Het
Aph1a	T	C	3: 95,802,150 (GRCm39)	V44A	possibly damaging	Het
Ash1l	T	A	3: 88,971,014 (GRCm39)		probably null	Het
Atg2b	A	G	12: 105,629,199 (GRCm39)	M410T	probably damaging	Het
Castor2	T	C	5: 134,165,936 (GRCm39)	F228S	possibly damaging	Het
Ccdc15	C	T	9: 37,226,753 (GRCm39)	G407D	probably benign	Het
Cd200r4	T	A	16: 44,653,504 (GRCm39)	N137K	probably damaging	Het
Clec18a	A	G	8: 111,798,683 (GRCm39)	L438P	probably damaging	Het
Clip1	A	G	5: 123,768,782 (GRCm39)	S606P	probably benign	Het
Col11a2	G	A	17: 34,280,230 (GRCm39)	G1193E	unknown	Het
Col6a4	A	G	9: 105,945,097 (GRCm39)	S1006P	possibly damaging	Het
Ctsc	A	T	7: 87,951,416 (GRCm39)	D221V	probably benign	Het
Ctse	T	C	1: 131,600,249 (GRCm39)	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,010,066 (GRCm39)	N93S	probably benign	Het
Daam1	A	T	12: 71,999,263 (GRCm39)	D633V	probably damaging	Het
Dlg2	G	A	7: 92,036,140 (GRCm39)	R607H	probably damaging	Het
Dsg2	T	A	18: 20,713,606 (GRCm39)	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473 (GRCm39)	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,345,506 (GRCm39)	S153A	probably damaging	Het
Eprs1	C	A	1: 185,130,591 (GRCm39)	H651N	probably benign	Het
Fat2	T	C	11: 55,142,910 (GRCm39)	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,702,714 (GRCm39)	K252R	probably benign	Het
Galt	A	T	4: 41,757,226 (GRCm39)	Q193L	probably benign	Het
Gm7356	T	C	17: 14,221,583 (GRCm39)	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd1	T	A	12: 51,838,073 (GRCm39)	R696S	possibly damaging	Het
Hydin	A	G	8: 111,178,668 (GRCm39)	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,282,306 (GRCm39)	S14R	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lrit3	T	C	3: 129,594,284 (GRCm39)	T98A	probably benign	Het
Macc1	A	G	12: 119,409,728 (GRCm39)	I165M	probably benign	Het
Mapre2	T	A	18: 23,991,218 (GRCm39)	M162K	probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Naa30	T	A	14: 49,410,865 (GRCm39)	N264K	probably benign	Het
Or5ac17	A	G	16: 59,036,352 (GRCm39)	V208A	probably benign	Het
Or8d2	T	A	9: 38,759,762 (GRCm39)	Y117*	probably null	Het
Osr2	T	C	15: 35,302,063 (GRCm39)	I221T	probably benign	Het
Pcdh12	A	T	18: 38,415,850 (GRCm39)	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,436,292 (GRCm39)	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,536,208 (GRCm39)	V734E	probably damaging	Het
Pibf1	T	A	14: 99,433,831 (GRCm39)	L593I	probably benign	Het
Prag1	G	A	8: 36,614,393 (GRCm39)	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,383,330 (GRCm39)	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,539 (GRCm39)	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,879,600 (GRCm39)	N356S	probably benign	Het
Rmc1	T	C	18: 12,321,690 (GRCm39)	V497A	possibly damaging	Het
Saxo4	A	T	19: 10,455,629 (GRCm39)	F207I	probably damaging	Het
Scrib	T	C	15: 75,931,037 (GRCm39)	H914R	possibly damaging	Het
Tdrd9	C	G	12: 111,951,500 (GRCm39)	L97V	probably benign	Het
Tle7	A	G	8: 110,835,493 (GRCm39)	M24V	probably benign	Het
Trabd	T	A	15: 88,970,024 (GRCm39)	L340H	probably damaging	Het
Trpm1	T	C	7: 63,849,017 (GRCm39)	W88R	probably damaging	Het
Txndc12	G	T	4: 108,710,419 (GRCm39)		probably null	Het
Vmn1r175	T	C	7: 23,508,523 (GRCm39)	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,012,994 (GRCm39)	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,400,441 (GRCm39)	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,270,398 (GRCm39)	E162G	probably benign	Het
Zfp93	T	A	7: 23,975,885 (GRCm39)	C623*	probably null	Het
Zzz3	A	G	3: 152,155,285 (GRCm39)	I645V	probably null	Het

Other mutations in Sema6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Sema6b	APN	17	56,437,048 (GRCm39)	missense	probably damaging	1.00
IGL01102:Sema6b	APN	17	56,439,761 (GRCm39)	missense	possibly damaging	0.91
IGL01533:Sema6b	APN	17	56,436,499 (GRCm39)	splice site	probably benign
IGL01611:Sema6b	APN	17	56,436,969 (GRCm39)	splice site	probably null
IGL01996:Sema6b	APN	17	56,438,157 (GRCm39)	missense	probably damaging	1.00
IGL02118:Sema6b	APN	17	56,439,821 (GRCm39)	missense	probably benign
R0010:Sema6b	UTSW	17	56,431,105 (GRCm39)	missense	probably benign	0.06
R0066:Sema6b	UTSW	17	56,435,271 (GRCm39)	missense	possibly damaging	0.83
R0066:Sema6b	UTSW	17	56,435,271 (GRCm39)	missense	possibly damaging	0.83
R0525:Sema6b	UTSW	17	56,433,630 (GRCm39)	missense	probably damaging	0.96
R0635:Sema6b	UTSW	17	56,436,971 (GRCm39)	critical splice donor site	probably null
R1129:Sema6b	UTSW	17	56,431,347 (GRCm39)	missense	probably benign
R1927:Sema6b	UTSW	17	56,439,797 (GRCm39)	missense	probably benign	0.00
R2211:Sema6b	UTSW	17	56,431,741 (GRCm39)	missense	probably benign	0.00
R4081:Sema6b	UTSW	17	56,435,307 (GRCm39)	missense	probably damaging	0.99
R5013:Sema6b	UTSW	17	56,439,497 (GRCm39)	critical splice donor site	probably null
R5296:Sema6b	UTSW	17	56,434,091 (GRCm39)	critical splice acceptor site	probably null
R5314:Sema6b	UTSW	17	56,435,413 (GRCm39)	nonsense	probably null
R6317:Sema6b	UTSW	17	56,431,047 (GRCm39)	missense	probably benign	0.26
R6419:Sema6b	UTSW	17	56,439,784 (GRCm39)	nonsense	probably null
R7255:Sema6b	UTSW	17	56,432,336 (GRCm39)	missense	probably benign	0.01
R7289:Sema6b	UTSW	17	56,432,573 (GRCm39)	missense	possibly damaging	0.77
R7805:Sema6b	UTSW	17	56,438,555 (GRCm39)	missense	probably damaging	1.00
R8290:Sema6b	UTSW	17	56,431,803 (GRCm39)	missense	possibly damaging	0.93
R8305:Sema6b	UTSW	17	56,434,084 (GRCm39)	missense	probably damaging	1.00
R9502:Sema6b	UTSW	17	56,439,500 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GGATTCTGGCCAACAAACAC -3'
(R):5'- GTTTTGCACTGTCACCTGTG -3'

Sequencing Primer
(F):5'- CCTGTTGCTAGGAGTTGAGAAGAC -3'
(R):5'- ACTGTCACCTGTGCCACC -3'

Posted On

2020-06-30