Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Sirpb1b'

512365

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6357 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

15560814-15640127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15568243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 366 (V366E)

Ref Sequence

ENSEMBL: ENSMUSP00000088869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091319] [ENSMUST00000192382]

AlphaFold

A0A0A6YXN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091319
AA Change: V366E

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: V366E

Domain	Start	End	E-Value	Type
low complexity region	15	23	N/A	INTRINSIC
IG	37	143	8.19e-9	SMART
IGc1	163	236	1.22e-4	SMART
IGc1	266	339	2.21e-5	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192382
AA Change: V372E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: V372E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG	37	143	3.3e-11	SMART
IGc1	163	236	5.1e-7	SMART
Pfam:C2-set_2	251	340	1e-4	PFAM
Pfam:Ig_2	251	348	2.7e-1	PFAM
Pfam:C1-set	258	341	1.3e-13	PFAM
transmembrane domain	370	392	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	Het

Other mutations in Sirpb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Sirpb1b	APN	3	15,613,789 (GRCm39)	missense	probably damaging	0.99
IGL01662:Sirpb1b	APN	3	15,608,244 (GRCm39)	missense	probably damaging	1.00
IGL02025:Sirpb1b	APN	3	15,613,863 (GRCm39)	missense	probably damaging	0.99
F5770:Sirpb1b	UTSW	3	15,568,243 (GRCm39)	missense	probably benign	0.25
R0419:Sirpb1b	UTSW	3	15,613,656 (GRCm39)	missense	probably damaging	1.00
R1538:Sirpb1b	UTSW	3	15,613,819 (GRCm39)	missense	possibly damaging	0.81
R3935:Sirpb1b	UTSW	3	15,613,843 (GRCm39)	missense	probably benign	0.05
R4300:Sirpb1b	UTSW	3	15,613,821 (GRCm39)	missense	probably damaging	1.00
R4373:Sirpb1b	UTSW	3	15,613,821 (GRCm39)	missense	probably damaging	1.00
R4953:Sirpb1b	UTSW	3	15,613,887 (GRCm39)	missense	probably damaging	1.00
R5425:Sirpb1b	UTSW	3	15,613,729 (GRCm39)	missense	probably damaging	1.00
R6340:Sirpb1b	UTSW	3	15,613,725 (GRCm39)	missense	probably damaging	1.00
R6723:Sirpb1b	UTSW	3	15,613,858 (GRCm39)	missense	possibly damaging	0.78
R7152:Sirpb1b	UTSW	3	15,607,230 (GRCm39)	missense	probably benign	0.25
R7390:Sirpb1b	UTSW	3	15,608,100 (GRCm39)	nonsense	probably null
R7411:Sirpb1b	UTSW	3	15,608,057 (GRCm39)	missense	probably benign	0.22
R7513:Sirpb1b	UTSW	3	15,607,200 (GRCm39)	nonsense	probably null
R7526:Sirpb1b	UTSW	3	15,613,932 (GRCm39)	missense	probably damaging	1.00
R8352:Sirpb1b	UTSW	3	15,607,410 (GRCm39)	missense	probably benign	0.03
R8452:Sirpb1b	UTSW	3	15,607,410 (GRCm39)	missense	probably benign	0.03
R8794:Sirpb1b	UTSW	3	15,613,843 (GRCm39)	missense	probably benign	0.05
R9165:Sirpb1b	UTSW	3	15,639,964 (GRCm39)	missense	probably damaging	1.00
R9793:Sirpb1b	UTSW	3	15,640,074 (GRCm39)	unclassified	probably benign
V7583:Sirpb1b	UTSW	3	15,568,243 (GRCm39)	missense	probably benign	0.25
Z1177:Sirpb1b	UTSW	3	15,640,001 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AATAGCATGACCCTCCTATTCATCC -3'
(R):5'- CCATGTCTTCTAAGTTGAACTACTG -3'

Sequencing Primer
(F):5'- GAAATGTGTGCACTCAGCTC -3'
(R):5'- CTGAATTTAATGGTGAAAGAGAACAC -3'

Posted On

2018-04-27