Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Sirpb1b'

184112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02025

Quality Score

Status

Chromosome

Chromosomal Location

15495751-15575065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15548803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 73 (R73Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091319] [ENSMUST00000192382] [ENSMUST00000195778]

AlphaFold

A0A0A6YXN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091319
AA Change: R73Q

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: R73Q

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 damaging
Transcript: ENSMUST00000192382
AA Change: R73Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: R73Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194767

Predicted Effect

probably benign
Transcript: ENSMUST00000195778

SMART Domains

Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028

Domain	Start	End	E-Value	Type
Pfam:Ig_2	14	66	5.6e-1	PFAM
Pfam:Ig_3	22	52	7.8e-3	PFAM
Pfam:V-set	24	75	1.9e-7	PFAM
IGc1	96	169	5.1e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,733,699		probably benign	Het
Akap6	A	G	12: 53,140,335	T1511A	probably benign	Het
Casp8	A	C	1: 58,824,147	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,385,143	E1274G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Depdc5	A	G	5: 32,946,632		probably null	Het
Dock5	A	G	14: 67,763,287	S1656P	probably damaging	Het
Dock6	A	G	9: 21,809,589	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,116,771	V72D	probably damaging	Het
Etl4	A	G	2: 20,806,526	D1508G	probably damaging	Het
Gm20489	A	C	X: 101,263,684	V21G	probably damaging	Het
Gm7173	A	T	X: 79,510,430	S230R	probably benign	Het
Il16	T	C	7: 83,652,848	N22S	probably damaging	Het
Ksr1	T	C	11: 79,021,450		probably null	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Naa25	T	C	5: 121,439,865	V945A	probably damaging	Het
Neb	T	C	2: 52,307,739	T501A	probably benign	Het
Npnt	A	C	3: 132,890,762		probably null	Het
Nr1h5	G	A	3: 102,949,626		probably benign	Het
Olfr12	A	G	1: 92,620,547	I214V	probably benign	Het
Olfr1331	G	A	4: 118,869,165	C127Y	probably damaging	Het
Olfr1361	A	G	13: 21,659,263	V20A	possibly damaging	Het
Opalin	T	C	19: 41,072,235		probably benign	Het
Pls3	A	T	X: 75,796,495	L341H	probably damaging	Het
Pnp2	T	A	14: 50,959,553	L32H	probably damaging	Het
Prpf40b	T	C	15: 99,314,588	F571S	probably damaging	Het
Prss16	A	G	13: 22,003,021	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,145,286	S619P	probably benign	Het
Slc22a8	G	A	19: 8,594,175	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713	R366W	probably damaging	Het
Tns2	T	A	15: 102,112,049	Y783*	probably null	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp7	C	T	15: 76,888,264	S55F	probably damaging	Het

Other mutations in Sirpb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Sirpb1b	APN	3	15548729	missense	probably damaging	0.99
IGL01662:Sirpb1b	APN	3	15543184	missense	probably damaging	1.00
F5770:Sirpb1b	UTSW	3	15503183	missense	probably benign	0.25
R0419:Sirpb1b	UTSW	3	15548596	missense	probably damaging	1.00
R1538:Sirpb1b	UTSW	3	15548759	missense	possibly damaging	0.81
R3935:Sirpb1b	UTSW	3	15548783	missense	probably benign	0.05
R4300:Sirpb1b	UTSW	3	15548761	missense	probably damaging	1.00
R4373:Sirpb1b	UTSW	3	15548761	missense	probably damaging	1.00
R4953:Sirpb1b	UTSW	3	15548827	missense	probably damaging	1.00
R5425:Sirpb1b	UTSW	3	15548669	missense	probably damaging	1.00
R6340:Sirpb1b	UTSW	3	15548665	missense	probably damaging	1.00
R6357:Sirpb1b	UTSW	3	15503183	missense	possibly damaging	0.79
R6723:Sirpb1b	UTSW	3	15548798	missense	possibly damaging	0.78
R7152:Sirpb1b	UTSW	3	15542170	missense	probably benign	0.25
R7390:Sirpb1b	UTSW	3	15543040	nonsense	probably null
R7411:Sirpb1b	UTSW	3	15542997	missense	probably benign	0.22
R7513:Sirpb1b	UTSW	3	15542140	nonsense	probably null
R7526:Sirpb1b	UTSW	3	15548872	missense	probably damaging	1.00
R8352:Sirpb1b	UTSW	3	15542350	missense	probably benign	0.03
R8452:Sirpb1b	UTSW	3	15542350	missense	probably benign	0.03
R8794:Sirpb1b	UTSW	3	15548783	missense	probably benign	0.05
R9165:Sirpb1b	UTSW	3	15574904	missense	probably damaging	1.00
R9793:Sirpb1b	UTSW	3	15575014	unclassified	probably benign
V7583:Sirpb1b	UTSW	3	15503183	missense	probably benign	0.25
Z1177:Sirpb1b	UTSW	3	15574941	missense	probably damaging	0.98

Posted On

2014-05-07