Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Sema6b'

405444

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

042879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56430085-56447343 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 56434091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130985 (fasta)

Gene Model

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

AlphaFold

O54951

Predicted Effect

probably null
Transcript: ENSMUST00000001256

SMART Domains

Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227

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 null
Transcript: ENSMUST00000167545

SMART Domains

Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227

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

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,537,353 (GRCm39)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,555,745 (GRCm39)	S2G	unknown	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,462,890 (GRCm39)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Uts2	G	T	4: 151,083,508 (GRCm39)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	probably damaging	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
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
R8157:Sema6b	UTSW	17	56,435,448 (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'- TGAAGTACTGGGATGCCCTC -3'
(R):5'- AAGTGTGGGCAAAGACCCTG -3'

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

Posted On

2016-07-22