Mutagenetix > Incidental Mutation

Incidental Mutation 'R3935:Sirpb1b'

307123

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3935 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15495751-15575065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15548783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 80 (T80S)

Ref Sequence

ENSEMBL: ENSMUSP00000088869 (fasta)

Gene Model

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

AlphaFold

A0A0A6YXN8

Predicted Effect

probably benign
Transcript: ENSMUST00000091319
AA Change: T80S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: T80S

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: T80S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: T80S

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arx	T	A	X: 93,297,369	L554Q	probably damaging	Het
Baz2b	A	G	2: 59,912,761	V1622A	possibly damaging	Het
Bbof1	A	G	12: 84,411,210	D83G	probably damaging	Het
Ccdc47	T	C	11: 106,201,997		probably benign	Het
Clstn3	G	A	6: 124,457,942	T338I	probably damaging	Het
Dsc1	T	A	18: 20,097,241	T336S	probably benign	Het
Elk3	A	G	10: 93,265,173	S239P	possibly damaging	Het
Fbll1	T	A	11: 35,797,648	I263F	probably damaging	Het
Fbxw8	T	G	5: 118,095,718	I283L	probably benign	Het
Fcgbp	T	C	7: 28,075,399	F133L	probably benign	Het
Gpr176	A	G	2: 118,279,296	V494A	probably benign	Het
Gpr85	A	G	6: 13,836,045	F287L	probably benign	Het
Hoxd11	A	G	2: 74,684,032	N302S	probably benign	Het
Iqgap1	T	G	7: 80,743,837	Y664S	possibly damaging	Het
Kansl1	A	T	11: 104,343,543	D712E	possibly damaging	Het
Kif1b	T	C	4: 149,237,160	N1101D	probably benign	Het
Kyat1	A	G	2: 30,185,749	L376P	probably damaging	Het
Lztr1	T	A	16: 17,522,195	Y93*	probably null	Het
Nrip1	A	G	16: 76,294,435	M78T	possibly damaging	Het
P4hb	A	C	11: 120,562,409	H440Q	probably benign	Het
Pbsn	T	C	X: 77,848,096	T32A	probably damaging	Het
Prg4	A	G	1: 150,458,157	I152T	possibly damaging	Het
Prss36	A	G	7: 127,934,608	L8P	probably damaging	Het
Prune2	T	C	19: 17,199,786	V2930A	probably damaging	Het
Ptchd4	G	C	17: 42,503,489	L760F	possibly damaging	Het
Rbms3	A	G	9: 116,636,391	L163P	probably damaging	Het
Scn1a	T	C	2: 66,327,776	I418V	probably damaging	Het
Sf3a1	T	A	11: 4,180,024		probably null	Het
Slc16a7	C	A	10: 125,230,843	R309L	probably damaging	Het
Slc35f1	C	T	10: 53,108,218	T358I	probably damaging	Het
Slmap	T	C	14: 26,459,415	E411G	probably benign	Het
Ssu72	C	T	4: 155,705,419	S13L	probably benign	Het
Sult2b1	C	T	7: 45,742,216	V49M	probably benign	Het
Tmem80	T	C	7: 141,334,025	Y30H	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
IGL02025:Sirpb1b	APN	3	15548803	missense	probably damaging	0.99
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
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
V7583:Sirpb1b	UTSW	3	15503183	missense	probably benign	0.25
Z1177:Sirpb1b	UTSW	3	15574941	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGACAACTCAGTGCCACCTC -3'
(R):5'- AAACTTGAGAAACCTGTGGTTC -3'

Sequencing Primer
(F):5'- TCAGTGCCACCTCCAGACTG -3'
(R):5'- CTTGAGAAACCTGTGGTTCTACATC -3'

Posted On

2015-04-17