Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Sema4b'

645164

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

067801-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R8345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79836589-79876275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79870567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 505 (V505E)

Ref Sequence

ENSEMBL: ENSMUSP00000032754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000205822]

AlphaFold

Q62179

Predicted Effect

probably damaging
Transcript: ENSMUST00000032754
AA Change: V505E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: V505E

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 damaging
Transcript: ENSMUST00000205822
AA Change: V505E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,284 (GRCm39)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,251,505 (GRCm39)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Aspm	T	G	1: 139,392,011 (GRCm39)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm39)	D29A	probably benign	Het
Bdh2	A	T	3: 135,001,013 (GRCm39)	I128F	probably damaging	Het
Bmper	T	A	9: 23,136,126 (GRCm39)	M69K	probably benign	Het
Ccdc7a	C	T	8: 129,525,245 (GRCm39)	M1415I	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,767,150 (GRCm39)	T564I	probably benign	Het
Cemip	T	A	7: 83,591,373 (GRCm39)		probably null	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Clec2m	T	A	6: 129,302,593 (GRCm39)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,485,690 (GRCm39)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,504,477 (GRCm39)	T879A	possibly damaging	Het
Diaph3	G	A	14: 87,066,529 (GRCm39)	Q955*	probably null	Het
Disp2	G	A	2: 118,641,284 (GRCm39)	V298M	unknown	Het
Dnah1	C	A	14: 30,986,551 (GRCm39)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,885,234 (GRCm39)	S13P	unknown	Het
Eci3	G	A	13: 35,132,164 (GRCm39)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,674,276 (GRCm39)	L232P	probably benign	Het
Ednra	G	A	8: 78,415,813 (GRCm39)	R145C	probably damaging	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,827,054 (GRCm39)	I275K	probably damaging	Het
Fat3	C	A	9: 15,910,570 (GRCm39)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,191,503 (GRCm39)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 27,854,785 (GRCm39)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,554,789 (GRCm39)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,077,440 (GRCm39)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,070,952 (GRCm39)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,101,605 (GRCm39)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Grm5	A	T	7: 87,723,746 (GRCm39)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,732,902 (GRCm39)	D21V	probably benign	Het
Jak2	T	C	19: 29,262,270 (GRCm39)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,387,897 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,924,993 (GRCm39)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,355,779 (GRCm39)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,653 (GRCm39)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,973,808 (GRCm39)	S1109P	probably benign	Het
Myocd	A	T	11: 65,077,958 (GRCm39)	C612*	probably null	Het
Or4b13	A	T	2: 90,082,561 (GRCm39)	M257K	possibly damaging	Het
Or4c102	A	G	2: 88,422,435 (GRCm39)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,357,864 (GRCm39)	C86*	probably null	Het
Or52h7	T	A	7: 104,213,431 (GRCm39)	M1K	probably null	Het
Or5w22	A	T	2: 87,362,691 (GRCm39)	T105S	probably benign	Het
Or8k21	A	T	2: 86,145,451 (GRCm39)	Y60N	probably damaging	Het
Pard3	C	T	8: 128,050,549 (GRCm39)	R204W	probably damaging	Het
Per1	T	A	11: 68,998,382 (GRCm39)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,055,105 (GRCm39)	S583P	unknown	Het
Pramel12	C	T	4: 143,143,438 (GRCm39)	T68I	probably benign	Het
Prex2	T	A	1: 11,270,118 (GRCm39)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,291,951 (GRCm39)	I756T	probably benign	Het
Pum2	T	C	12: 8,759,454 (GRCm39)	V98A	probably damaging	Het
Rad50	A	T	11: 53,574,968 (GRCm39)	S652T	probably benign	Het
Rfng	G	T	11: 120,674,901 (GRCm39)	P30T	unknown	Het
Rfx7	T	C	9: 72,524,973 (GRCm39)	I721T	probably benign	Het
Rpf1	G	T	3: 146,213,431 (GRCm39)	T240K	probably benign	Het
Ryr3	T	C	2: 112,483,270 (GRCm39)	N4189S	probably benign	Het
Samd15	G	C	12: 87,248,212 (GRCm39)	R299T	probably benign	Het
Scn3a	A	G	2: 65,329,335 (GRCm39)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,324,966 (GRCm39)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,634,605 (GRCm39)	R107Q	probably benign	Het
Siglec1	T	A	2: 130,920,498 (GRCm39)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm39)	E69G	possibly damaging	Het
Slc12a8	C	A	16: 33,371,321 (GRCm39)	D121E	probably benign	Het
Slc30a10	A	T	1: 185,187,664 (GRCm39)	Q135L	probably benign	Het
Suox	A	G	10: 128,507,200 (GRCm39)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,273,823 (GRCm39)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,011,256 (GRCm39)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,256,601 (GRCm39)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,076,968 (GRCm39)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,127 (GRCm39)	L229*	probably null	Het
Vwf	A	T	6: 125,656,265 (GRCm39)	D2610V		Het
Zfp646	C	T	7: 127,483,082 (GRCm39)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm39)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,251,731 (GRCm39)	I317F	unknown	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
R5820:Sema4b	UTSW	7	79,874,706 (GRCm39)	missense	probably damaging	0.99
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
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'- GAAAGTTACAGAGCCCTGGC -3'
(R):5'- AAATAACCATGTGCAGGGGTC -3'

Sequencing Primer
(F):5'- CTGGCTTCTGACCATAAAAAGG -3'
(R):5'- TCCCAGAGAAGATGCAGTGCTC -3'

Posted On

2020-09-02