Mutagenetix > Incidental Mutation

Incidental Mutation 'R0419:Sirpb1b'

36911

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

MMRRC Submission

038621-MU

Accession Numbers

Essential gene?

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

Stock #

R0419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15560814-15640127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15613656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 75 (V75E)

Ref Sequence

ENSEMBL: ENSMUSP00000141533 (fasta)

Gene Model

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

AlphaFold

A0A0A6YXN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000091319
AA Change: V142E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: V142E

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: V142E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: V142E

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 damaging
Transcript: ENSMUST00000195778
AA Change: V75E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028
AA Change: V75E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,842 (GRCm39)		probably benign	Het
5730507C01Rik	A	T	12: 18,583,424 (GRCm39)	R161S	possibly damaging	Het
Adamts5	T	C	16: 85,663,530 (GRCm39)	I735V	probably benign	Het
Arid1a	G	T	4: 133,408,435 (GRCm39)	P2024Q	unknown	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
B3galt4	T	C	17: 34,169,764 (GRCm39)	Y158C	probably damaging	Het
BC049715	A	G	6: 136,817,143 (GRCm39)	T128A	possibly damaging	Het
Btaf1	T	A	19: 36,922,629 (GRCm39)	I11N	probably damaging	Het
Cfb	T	C	17: 35,077,485 (GRCm39)	I496V	probably damaging	Het
Chd8	A	T	14: 52,441,517 (GRCm39)	H858Q	probably benign	Het
Chrne	T	C	11: 70,506,549 (GRCm39)	I324V	probably benign	Het
Clec14a	T	C	12: 58,314,451 (GRCm39)	I390M	probably damaging	Het
Cpsf3	A	G	12: 21,347,800 (GRCm39)	Y207C	probably damaging	Het
Cubn	A	C	2: 13,474,574 (GRCm39)	I410S	possibly damaging	Het
Cubn	T	A	2: 13,474,575 (GRCm39)	I410F	possibly damaging	Het
Dlc1	T	C	8: 37,050,740 (GRCm39)	E997G	possibly damaging	Het
Emilin1	G	T	5: 31,072,366 (GRCm39)	V71F	probably damaging	Het
Esrp2	T	C	8: 106,861,307 (GRCm39)	E164G	probably damaging	Het
Fars2	A	G	13: 36,721,285 (GRCm39)	T410A	probably benign	Het
Fat3	A	G	9: 15,903,552 (GRCm39)	V2981A	probably damaging	Het
Fkbp15	G	A	4: 62,244,373 (GRCm39)	T472I	probably benign	Het
Gm6871	A	G	7: 41,222,869 (GRCm39)	V73A	probably benign	Het
Gnl2	T	G	4: 124,947,320 (GRCm39)	S647R	probably benign	Het
Grb10	T	C	11: 11,884,207 (GRCm39)	I500V	possibly damaging	Het
Herc1	T	C	9: 66,353,356 (GRCm39)		probably benign	Het
Iqgap2	A	C	13: 95,826,207 (GRCm39)		probably null	Het
Kcnu1	A	T	8: 26,427,646 (GRCm39)	N321I	probably benign	Het
Kif23	G	A	9: 61,833,687 (GRCm39)	R519*	probably null	Het
Klhl1	C	T	14: 96,619,225 (GRCm39)	R224Q	probably benign	Het
Lama1	T	C	17: 68,098,605 (GRCm39)		probably null	Het
Lamp3	T	C	16: 19,492,302 (GRCm39)	Y314C	probably damaging	Het
Lamtor5	C	A	3: 107,189,227 (GRCm39)	R88S	probably damaging	Het
Nbea	G	T	3: 55,726,715 (GRCm39)	A2088E	probably benign	Het
Neo1	A	G	9: 58,897,463 (GRCm39)		probably benign	Het
Ntn4	A	T	10: 93,518,291 (GRCm39)	R199S	probably benign	Het
Or5ap2	A	T	2: 85,680,311 (GRCm39)	R172*	probably null	Het
Plekho2	A	G	9: 65,464,334 (GRCm39)	S172P	possibly damaging	Het
Pmp2	T	C	3: 10,245,823 (GRCm39)	Y129C	probably damaging	Het
Prss3b	T	C	6: 41,011,281 (GRCm39)	N34D	probably benign	Het
Ralgapa2	A	T	2: 146,270,592 (GRCm39)	M578K	possibly damaging	Het
Ranbp3	C	T	17: 57,015,219 (GRCm39)	T307M	possibly damaging	Het
Serpinb11	G	A	1: 107,304,590 (GRCm39)	W185*	probably null	Het
Setdb2	A	T	14: 59,644,193 (GRCm39)		probably null	Het
Slc13a1	A	T	6: 24,100,292 (GRCm39)	L397Q	probably damaging	Het
Slc19a1	T	A	10: 76,878,742 (GRCm39)	I355N	probably damaging	Het
Slc51a	T	A	16: 32,295,254 (GRCm39)	I275F	possibly damaging	Het
Spink14	T	C	18: 44,164,934 (GRCm39)	S84P	probably damaging	Het
Stx2	A	G	5: 129,070,641 (GRCm39)		probably benign	Het
Tgfbi	G	T	13: 56,780,006 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,504,643 (GRCm39)	M527K	probably damaging	Het
Upb1	T	C	10: 75,248,717 (GRCm39)	V79A	probably damaging	Het
Zdhhc5	A	T	2: 84,521,587 (GRCm39)		probably null	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp280d	T	C	9: 72,219,519 (GRCm39)	V32A	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
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
R6357:Sirpb1b	UTSW	3	15,568,243 (GRCm39)	missense	possibly damaging	0.79
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'- GCACATAGCACGTCCACACTTCTTC -3'
(R):5'- TGAACTGCACAGTGACATCCCTCC -3'

Sequencing Primer
(F):5'- ACGTCCACACTTCTTCTCAGG -3'
(R):5'- CTTGATACAGTCGTTCACAGGAG -3'

Posted On

2013-05-09