Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Sema6b'

641033

Institutional Source

Beutler Lab

Gene Symbol

Sema6b

Ensembl Gene

ENSMUSG00000001227

Gene Name

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

Synonyms

Sema, Seman, semaZ, VIb

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56123085-56140343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56127084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 377 (G377E)

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: G377E

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

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: G377E

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: G377E

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

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: G377E

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: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,971,395	E243K	possibly damaging	Het
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,618,150	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcdhb14	T	A	18: 37,450,022	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,473,585	I535F	probably benign	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Ttc23	A	C	7: 67,662,387	D14A	probably damaging	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	Het

Other mutations in Sema6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Sema6b	APN	17	56130048	missense	probably damaging	1.00
IGL01102:Sema6b	APN	17	56132761	missense	possibly damaging	0.91
IGL01533:Sema6b	APN	17	56129499	splice site	probably benign
IGL01611:Sema6b	APN	17	56129969	splice site	probably null
IGL01996:Sema6b	APN	17	56131157	missense	probably damaging	1.00
IGL02118:Sema6b	APN	17	56132821	missense	probably benign
R0010:Sema6b	UTSW	17	56124105	missense	probably benign	0.06
R0066:Sema6b	UTSW	17	56128271	missense	possibly damaging	0.83
R0066:Sema6b	UTSW	17	56128271	missense	possibly damaging	0.83
R0525:Sema6b	UTSW	17	56126630	missense	probably damaging	0.96
R0635:Sema6b	UTSW	17	56129971	critical splice donor site	probably null
R1129:Sema6b	UTSW	17	56124347	missense	probably benign
R1927:Sema6b	UTSW	17	56132797	missense	probably benign	0.00
R2211:Sema6b	UTSW	17	56124741	missense	probably benign	0.00
R4081:Sema6b	UTSW	17	56128307	missense	probably damaging	0.99
R5013:Sema6b	UTSW	17	56132497	critical splice donor site	probably null
R5296:Sema6b	UTSW	17	56127091	critical splice acceptor site	probably null
R5314:Sema6b	UTSW	17	56128413	nonsense	probably null
R6317:Sema6b	UTSW	17	56124047	missense	probably benign	0.26
R6419:Sema6b	UTSW	17	56132784	nonsense	probably null
R7255:Sema6b	UTSW	17	56125336	missense	probably benign	0.01
R7289:Sema6b	UTSW	17	56125573	missense	possibly damaging	0.77
R7805:Sema6b	UTSW	17	56131555	missense	probably damaging	1.00
R8157:Sema6b	UTSW	17	56128448	missense	probably damaging	1.00
R8290:Sema6b	UTSW	17	56124803	missense	possibly damaging	0.93
R9502:Sema6b	UTSW	17	56132500	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGAAGTACTGGGATGCCCTC -3'
(R):5'- AAGTGTGGGCAAAGACCCTG -3'

Sequencing Primer
(F):5'- TCCTCCCCAGGACTGACC -3'
(R):5'- TGTGAGGCCCAGGCAAATC -3'

Posted On

2020-07-28