Mutagenetix > Incidental Mutation

Incidental Mutation 'R4373:Sirpb1b'

326049

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

MMRRC Submission

041675-MU

Accession Numbers

Essential gene?

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

Stock #

R4373 (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 15613821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 87 (I87K)

Ref Sequence

ENSEMBL: ENSMUSP00000142068 (fasta)

Gene Model

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

AlphaFold

A0A0A6YXN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000091319
AA Change: I87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: I87K

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: I87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: I87K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Akr1b1	A	C	6: 34,281,202 (GRCm39)		probably benign	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Asns	A	T	6: 7,677,978 (GRCm39)	S367T	probably damaging	Het
BC034090	T	C	1: 155,101,904 (GRCm39)	N120S	probably benign	Het
Bub1	A	T	2: 127,647,156 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Ctsz	T	C	2: 174,270,378 (GRCm39)	E268G	possibly damaging	Het
Dach1	G	A	14: 98,065,186 (GRCm39)	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,533,874 (GRCm39)	L240S	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Esam	C	T	9: 37,445,492 (GRCm39)	T71I	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Gde1	A	G	7: 118,297,781 (GRCm39)	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,466,647 (GRCm39)		probably benign	Het
H2-M10.6	T	C	17: 37,123,958 (GRCm39)	Y141H	probably damaging	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lamc3	A	G	2: 31,788,244 (GRCm39)	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,297,489 (GRCm39)	F184S	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,687,074 (GRCm39)	T611S	probably benign	Het
Myc	A	T	15: 61,861,513 (GRCm39)	H373L	probably damaging	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naaa	T	C	5: 92,426,002 (GRCm39)		probably benign	Het
Nfib	A	G	4: 82,241,895 (GRCm39)	V432A	probably damaging	Het
Nmt1	A	G	11: 102,934,026 (GRCm39)	K55R	probably damaging	Het
Opa3	C	T	7: 18,978,699 (GRCm39)	R55W	probably damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Pld5	T	A	1: 175,967,583 (GRCm39)	I91F	probably damaging	Het
Plec	A	C	15: 76,067,317 (GRCm39)	S1350A	probably damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,685 (GRCm39)	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,334,367 (GRCm39)	S645P	probably damaging	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Sanbr	A	T	11: 23,565,265 (GRCm39)		probably null	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,405,989 (GRCm39)		probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Stat4	T	C	1: 52,111,100 (GRCm39)		probably null	Het
Tex9	A	T	9: 72,387,877 (GRCm39)		probably null	Het
Tsku	T	C	7: 98,002,038 (GRCm39)	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,620,395 (GRCm39)	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,511,667 (GRCm39)	I625F	probably damaging	Het
Xpo4	G	A	14: 57,828,479 (GRCm39)	Q794*	probably null	Het
Zfp112	T	A	7: 23,824,473 (GRCm39)	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
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'- GAGTCTTCAGACCTGTAGGAGAAATG -3'
(R):5'- GAGAGCTGAAGGTGATCCAACC -3'

Sequencing Primer
(F):5'- CAGACCTGTAGGAGAAATGAAGAATG -3'
(R):5'- CTGAAGGTGATCCAACCTGTTAAATC -3'

Posted On

2015-07-06