Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Sirpb1b'

695965

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1b

Ensembl Gene

ENSMUSG00000095028

Gene Name

signal-regulatory protein beta 1B

Synonyms

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15495751-15575065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15574904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 16 (L16P)

Ref Sequence

ENSEMBL: ENSMUSP00000088869 (fasta)

Gene Model

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

AlphaFold

A0A0A6YXN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000091319
AA Change: L16P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: L16P

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: L16P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: L16P

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

unknown
Transcript: ENSMUST00000195778
AA Change: L16P

SMART Domains

Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028
AA Change: L16P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,615,244	I248V	probably benign	Het
1700122O11Rik	T	C	17: 48,037,548	I27V	probably benign	Het
A2ml1	T	A	6: 128,560,669	H693L	probably benign	Het
Acacb	A	G	5: 114,216,683	E1206G	probably benign	Het
Acoxl	A	G	2: 127,884,512	T269A	probably benign	Het
Ak9	A	G	10: 41,433,239	K1879R	unknown	Het
Amot	A	T	X: 145,461,749	L435H		Het
Bnc2	A	T	4: 84,411,494	L95Q		Het
Bpifa2	G	T	2: 154,009,821	W59L	probably benign	Het
Cd209a	T	A	8: 3,745,602	Q156H	probably damaging	Het
Cep104	T	A	4: 153,994,514		probably null	Het
Cpt1c	A	G	7: 44,959,501	*799R	probably null	Het
Csn2	A	T	5: 87,694,559	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,538,369	A872P	probably damaging	Het
Dlg5	C	A	14: 24,146,241	L1629F	probably damaging	Het
Dmxl1	A	G	18: 49,878,925	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,144,941	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,276,706	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883	V2425D	probably damaging	Het
Eif2a	G	A	3: 58,545,274	R199Q	probably damaging	Het
F10	T	C	8: 13,039,564	F60L	probably benign	Het
Faf2	A	G	13: 54,652,138	I253V	probably benign	Het
Fam71a	A	G	1: 191,163,061	S462P	probably benign	Het
Flt1	T	A	5: 147,615,237	S715C	probably damaging	Het
Gm2056	A	G	12: 88,027,307	S102G	possibly damaging	Het
Gm5150	G	T	3: 15,990,896	T55K	probably damaging	Het
Gria1	T	C	11: 57,185,933	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,454,064	Q505R	probably benign	Het
Gzma	A	T	13: 113,100,921	S11T	probably benign	Het
Hoxa6	G	A	6: 52,208,555	Q24*	probably null	Het
Kcnj14	T	A	7: 45,819,644	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,920,771	R149H	probably damaging	Het
Lama2	A	G	10: 27,053,026		probably null	Het
Lama5	C	A	2: 180,179,493	R3092L	probably damaging	Het
Lca5l	T	A	16: 96,176,018	N196I	probably damaging	Het
Lig4	A	G	8: 9,972,394	L462S	probably damaging	Het
Nbea	A	T	3: 56,004,868	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,181,603	F401Y	probably benign	Het
Olfr1335	T	A	4: 118,808,998	R289*	probably null	Het
Olfr1431	A	T	19: 12,209,922	M119L	probably damaging	Het
Olfr1507	A	G	14: 52,490,373	I197T	possibly damaging	Het
Olfr299	A	T	7: 86,465,617	M69L	probably benign	Het
Otop3	A	C	11: 115,344,598	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,272,637	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,816,087	V497F	possibly damaging	Het
Pnma2	G	A	14: 66,917,123	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,331,564	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659	R277P	unknown	Het
Prdm2	A	G	4: 143,132,104	S1539P	possibly damaging	Het
Ptger2	A	G	14: 44,989,778	T272A	probably damaging	Het
Qser1	T	C	2: 104,788,470	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,281,804		probably benign	Het
Sacm1l	G	T	9: 123,568,956	V238L	probably damaging	Het
Sec16a	C	T	2: 26,423,633	G454D		Het
Sil1	A	G	18: 35,317,846	S259P	possibly damaging	Het
Slc22a20	A	T	19: 5,982,851	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,533,623	R580L	probably benign	Het
Ssr3	A	G	3: 65,383,100	V128A	probably damaging	Het
Stpg2	G	T	3: 139,309,232	S386I	possibly damaging	Het
Taar8c	C	A	10: 24,101,602	C104F	probably damaging	Het
Tex2	T	C	11: 106,567,269	E445G	unknown	Het
Tmem253	A	C	14: 52,018,642	D126A	probably benign	Het
Tox4	A	G	14: 52,285,790	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,811,538	S254C	probably benign	Het
Trmt12	T	G	15: 58,873,745	S331A	probably benign	Het
Ttn	A	G	2: 76,713,006	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,080,734	E431K	unknown	Het
Ugt1a10	A	T	1: 88,055,787	E102D	probably benign	Het
Unc80	A	T	1: 66,549,841	E1055V	probably null	Het
Vav1	C	A	17: 57,311,895	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,432,261	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,732,070	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,679,024		probably benign	Het
Vps33b	G	A	7: 80,274,686		probably null	Het
Vrtn	T	A	12: 84,650,477	L667Q	probably benign	Het
Xirp1	G	A	9: 120,018,236	T527M	probably benign	Het
Ylpm1	T	A	12: 85,030,568	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,701,454	Y251F	possibly damaging	Het
Zmym2	A	T	14: 56,948,007	Y1032F	probably damaging	Het

Other mutations in Sirpb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Sirpb1b	APN	3	15,548,729 (GRCm38)	missense	probably damaging	0.99
IGL01662:Sirpb1b	APN	3	15,543,184 (GRCm38)	missense	probably damaging	1.00
IGL02025:Sirpb1b	APN	3	15,548,803 (GRCm38)	missense	probably damaging	0.99
F5770:Sirpb1b	UTSW	3	15,503,183 (GRCm38)	missense	probably benign	0.25
R0419:Sirpb1b	UTSW	3	15,548,596 (GRCm38)	missense	probably damaging	1.00
R1538:Sirpb1b	UTSW	3	15,548,759 (GRCm38)	missense	possibly damaging	0.81
R3935:Sirpb1b	UTSW	3	15,548,783 (GRCm38)	missense	probably benign	0.05
R4300:Sirpb1b	UTSW	3	15,548,761 (GRCm38)	missense	probably damaging	1.00
R4373:Sirpb1b	UTSW	3	15,548,761 (GRCm38)	missense	probably damaging	1.00
R4953:Sirpb1b	UTSW	3	15,548,827 (GRCm38)	missense	probably damaging	1.00
R5425:Sirpb1b	UTSW	3	15,548,669 (GRCm38)	missense	probably damaging	1.00
R6340:Sirpb1b	UTSW	3	15,548,665 (GRCm38)	missense	probably damaging	1.00
R6357:Sirpb1b	UTSW	3	15,503,183 (GRCm38)	missense	possibly damaging	0.79
R6723:Sirpb1b	UTSW	3	15,548,798 (GRCm38)	missense	possibly damaging	0.78
R7152:Sirpb1b	UTSW	3	15,542,170 (GRCm38)	missense	probably benign	0.25
R7390:Sirpb1b	UTSW	3	15,543,040 (GRCm38)	nonsense	probably null
R7411:Sirpb1b	UTSW	3	15,542,997 (GRCm38)	missense	probably benign	0.22
R7513:Sirpb1b	UTSW	3	15,542,140 (GRCm38)	nonsense	probably null
R7526:Sirpb1b	UTSW	3	15,548,872 (GRCm38)	missense	probably damaging	1.00
R8352:Sirpb1b	UTSW	3	15,542,350 (GRCm38)	missense	probably benign	0.03
R8452:Sirpb1b	UTSW	3	15,542,350 (GRCm38)	missense	probably benign	0.03
R8794:Sirpb1b	UTSW	3	15,548,783 (GRCm38)	missense	probably benign	0.05
R9793:Sirpb1b	UTSW	3	15,575,014 (GRCm38)	unclassified	probably benign
V7583:Sirpb1b	UTSW	3	15,503,183 (GRCm38)	missense	probably benign	0.25
Z1177:Sirpb1b	UTSW	3	15,574,941 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCTCACATTCCAGTTCAGGC -3'
(R):5'- AAGCTGCATGCAACACTGTTTAG -3'

Sequencing Primer
(F):5'- TCAGGCAGTGCTCAGAATTC -3'
(R):5'- AAGCAGTATGGTTCCTGTTTTCAC -3'

Posted On

2022-02-07