Mutagenetix > Incidental Mutation

Incidental Mutation 'R5820:Sema4b'

449858

Institutional Source

Beutler Lab

Gene Symbol

Sema4b

Ensembl Gene

ENSMUSG00000030539

Gene Name

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B

Synonyms

SemC, Semac

MMRRC Submission

043400-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R5820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79836589-79876275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79874706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 699 (S699P)

Ref Sequence

ENSEMBL: ENSMUSP00000145622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000205822] [ENSMUST00000205996] [ENSMUST00000206802] [ENSMUST00000206084]

AlphaFold

Q62179

Predicted Effect

probably damaging
Transcript: ENSMUST00000032754
AA Change: S699P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: S699P

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Sema	57	494	8.07e-177	SMART
PSI	512	582	4.7e-9	SMART
low complexity region	626	639	N/A	INTRINSIC
transmembrane domain	701	723	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065163

SMART Domains

Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	84	100	N/A	INTRINSIC
EFh	107	135	4.4e0	SMART
EFh	152	180	1.17e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071457

SMART Domains

Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	36	52	N/A	INTRINSIC
EFh	59	87	4.4e0	SMART
EFh	104	132	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107383

SMART Domains

Protein: ENSMUSP00000103006
Gene: ENSMUSG00000030539

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Sema	57	494	8.07e-177	SMART
PSI	512	550	2.68e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123279

SMART Domains

Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
EFh	33	61	4.4e0	SMART
EFh	78	106	1.17e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131402

Predicted Effect

probably damaging
Transcript: ENSMUST00000205822
AA Change: S699P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206211

Predicted Effect

probably benign
Transcript: ENSMUST00000205996

Predicted Effect

probably benign
Transcript: ENSMUST00000206802

Predicted Effect

probably benign
Transcript: ENSMUST00000206084

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal cerebellar morphology. Mice homozygous for a knock-out allele exhibit enhanced memory response by way of increased IgE and IgG1 serum levels. [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
Abcc4	A	G	14: 118,841,607 (GRCm39)	Y596H	probably benign	Het
Adgrg3	A	T	8: 95,766,221 (GRCm39)	M351L	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef38	A	T	3: 132,866,560 (GRCm39)	D192E	probably benign	Het
Arhgef40	T	C	14: 52,224,953 (GRCm39)	F33L	possibly damaging	Het
Arid1b	A	G	17: 5,046,529 (GRCm39)	Y439C	possibly damaging	Het
Bltp1	T	C	3: 37,093,675 (GRCm39)	V875A	probably benign	Het
Bop1	G	A	15: 76,339,041 (GRCm39)	P386S	probably damaging	Het
Cacna1s	A	G	1: 136,007,342 (GRCm39)	H453R	probably damaging	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Chfr	T	A	5: 110,310,605 (GRCm39)	D475E	possibly damaging	Het
Clcn7	A	C	17: 25,368,026 (GRCm39)	K208T	probably damaging	Het
Cmya5	G	T	13: 93,229,288 (GRCm39)	N1933K	probably benign	Het
CN725425	A	G	15: 91,144,900 (GRCm39)	T588A	possibly damaging	Het
Cwh43	G	A	5: 73,585,975 (GRCm39)	W358*	probably null	Het
Cyfip2	A	T	11: 46,091,531 (GRCm39)	W1130R	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Disp1	T	C	1: 182,917,151 (GRCm39)	S92G	probably benign	Het
Dusp6	A	G	10: 99,099,864 (GRCm39)	D104G	possibly damaging	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Ecscr	C	A	18: 35,850,320 (GRCm39)	V52F	possibly damaging	Het
Epha7	A	T	4: 28,949,365 (GRCm39)	N712I	probably damaging	Het
Eva1a	C	T	6: 82,048,154 (GRCm39)	P11S	probably benign	Het
Fam187b	T	C	7: 30,676,577 (GRCm39)	C29R	probably damaging	Het
Fau	T	C	19: 6,109,452 (GRCm39)	V117A	probably benign	Het
Fbxw11	A	G	11: 32,685,374 (GRCm39)	D369G	probably damaging	Het
Fkbp15	A	G	4: 62,263,783 (GRCm39)	F95L	probably benign	Het
Fkbp6	A	T	5: 135,368,774 (GRCm39)		probably null	Het
Fmo9	T	C	1: 166,492,170 (GRCm39)	K367E	possibly damaging	Het
Gad2	T	C	2: 22,580,261 (GRCm39)	V554A	probably benign	Het
Gm18025	T	C	12: 34,340,631 (GRCm39)	D154G	probably benign	Het
Gm4353	A	G	7: 115,683,693 (GRCm39)	F34S	possibly damaging	Het
Gucy2e	A	G	11: 69,123,522 (GRCm39)	I459T	probably benign	Het
Hpx	A	G	7: 105,240,995 (GRCm39)	I426T	possibly damaging	Het
Hspa9	T	C	18: 35,076,227 (GRCm39)	T362A	possibly damaging	Het
Insr	G	A	8: 3,205,976 (GRCm39)	P1271L	probably damaging	Het
Jarid2	G	A	13: 45,055,777 (GRCm39)	V328I	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kif18b	A	G	11: 102,803,874 (GRCm39)	S429P	probably benign	Het
Lats1	A	T	10: 7,581,672 (GRCm39)	H819L	probably damaging	Het
Lmnb1	T	A	18: 56,873,858 (GRCm39)	D421E	possibly damaging	Het
Lrp4	T	C	2: 91,322,960 (GRCm39)	I1148T	probably damaging	Het
Map1b	T	A	13: 99,569,332 (GRCm39)	M1130L	unknown	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Myh6	T	C	14: 55,196,137 (GRCm39)	Y554C	probably damaging	Het
Myl4	T	C	11: 104,474,806 (GRCm39)	F52L	probably damaging	Het
Nol12	C	T	15: 78,824,680 (GRCm39)	T169I	probably benign	Het
Nrde2	C	T	12: 100,098,546 (GRCm39)	R707H	probably benign	Het
Oasl1	G	A	5: 115,075,037 (GRCm39)	V366M	possibly damaging	Het
Or8b47	T	C	9: 38,435,895 (GRCm39)	I289T	possibly damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polrmt	C	T	10: 79,574,157 (GRCm39)		probably null	Het
Ppil4	A	G	10: 7,686,174 (GRCm39)	D344G	probably null	Het
Ppp2r3d	C	T	9: 124,422,765 (GRCm38)	A69T	possibly damaging	Het
Prmt3	C	T	7: 49,498,554 (GRCm39)	P487S	probably damaging	Het
Ptprm	A	T	17: 66,996,460 (GRCm39)	L1209H	probably damaging	Het
Rnf115	G	A	3: 96,635,164 (GRCm39)		probably benign	Het
Sec63	A	G	10: 42,672,241 (GRCm39)	D185G	possibly damaging	Het
Serpinb3d	T	G	1: 107,006,089 (GRCm39)	E333A	probably damaging	Het
Sh3rf2	T	C	18: 42,274,112 (GRCm39)	L426P	possibly damaging	Het
Slco6d1	A	G	1: 98,427,503 (GRCm39)	I611M	probably damaging	Het
Stk31	T	A	6: 49,394,219 (GRCm39)	Y194N	probably damaging	Het
Tlr9	G	A	9: 106,099,906 (GRCm39)		probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn1r188	G	A	13: 22,272,256 (GRCm39)	G70D	possibly damaging	Het
Zfp318	A	G	17: 46,723,699 (GRCm39)	M1901V	probably benign	Het
Zfp407	A	T	18: 84,578,649 (GRCm39)	D821E	probably benign	Het

Other mutations in Sema4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Sema4b	APN	7	79,865,444 (GRCm39)	missense	probably damaging	1.00
IGL02584:Sema4b	APN	7	79,874,736 (GRCm39)	missense	probably benign
IGL02657:Sema4b	APN	7	79,866,789 (GRCm39)	missense	probably damaging	1.00
false_flag	UTSW	7	79,848,402 (GRCm39)	start codon destroyed	probably null
R0114:Sema4b	UTSW	7	79,868,826 (GRCm39)	splice site	probably benign
R0480:Sema4b	UTSW	7	79,869,954 (GRCm39)	missense	probably damaging	1.00
R1184:Sema4b	UTSW	7	79,874,388 (GRCm39)	missense	probably benign	0.27
R1545:Sema4b	UTSW	7	79,868,771 (GRCm39)	missense	probably benign	0.02
R1687:Sema4b	UTSW	7	79,869,010 (GRCm39)	missense	probably damaging	1.00
R1880:Sema4b	UTSW	7	79,866,540 (GRCm39)	missense	probably damaging	0.96
R1881:Sema4b	UTSW	7	79,866,540 (GRCm39)	missense	probably damaging	0.96
R2180:Sema4b	UTSW	7	79,862,583 (GRCm39)	missense	probably benign	0.28
R2352:Sema4b	UTSW	7	79,870,627 (GRCm39)	missense	probably damaging	0.99
R2424:Sema4b	UTSW	7	79,869,023 (GRCm39)	missense	probably damaging	1.00
R3913:Sema4b	UTSW	7	79,870,222 (GRCm39)	missense	probably benign
R4353:Sema4b	UTSW	7	79,865,399 (GRCm39)	missense	probably damaging	1.00
R4757:Sema4b	UTSW	7	79,866,577 (GRCm39)	missense	probably damaging	1.00
R4921:Sema4b	UTSW	7	79,848,504 (GRCm39)	missense	possibly damaging	0.77
R5004:Sema4b	UTSW	7	79,866,093 (GRCm39)	missense	probably benign	0.13
R5399:Sema4b	UTSW	7	79,874,634 (GRCm39)	missense	probably benign
R5599:Sema4b	UTSW	7	79,863,039 (GRCm39)	missense	probably benign	0.40
R5840:Sema4b	UTSW	7	79,868,697 (GRCm39)	missense	probably damaging	1.00
R5901:Sema4b	UTSW	7	79,874,715 (GRCm39)	missense	possibly damaging	0.49
R6600:Sema4b	UTSW	7	79,862,676 (GRCm39)	missense	probably benign	0.42
R6749:Sema4b	UTSW	7	79,869,949 (GRCm39)	missense	possibly damaging	0.56
R6992:Sema4b	UTSW	7	79,869,900 (GRCm39)	missense	probably damaging	0.97
R7175:Sema4b	UTSW	7	79,848,402 (GRCm39)	start codon destroyed	probably null
R7660:Sema4b	UTSW	7	79,869,995 (GRCm39)	missense	probably benign	0.01
R8345:Sema4b	UTSW	7	79,870,567 (GRCm39)	missense	probably damaging	0.98
R8819:Sema4b	UTSW	7	79,870,248 (GRCm39)	missense	probably damaging	1.00
R8820:Sema4b	UTSW	7	79,870,248 (GRCm39)	missense	probably damaging	1.00
R8960:Sema4b	UTSW	7	79,875,076 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTGCCCACAGGTAAGCC -3'
(R):5'- TCTCAGGTGGTAGCACTATAGG -3'

Sequencing Primer
(F):5'- TCTGGGTGCACAATGGAGC -3'
(R):5'- AGCACTATAGGGCGAGTCTTG -3'

Posted On

2016-12-20