Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Sirpb1c'

595160

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1c

Ensembl Gene

ENSMUSG00000074677

Gene Name

signal-regulatory protein beta 1C

Synonyms

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15849311-15902694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15886236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 380 (Y380F)

Ref Sequence

ENSEMBL: ENSMUSP00000103987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050623] [ENSMUST00000108349] [ENSMUST00000108350] [ENSMUST00000108352] [ENSMUST00000108354]

AlphaFold

K7N6K7

Predicted Effect

probably benign
Transcript: ENSMUST00000050623

SMART Domains

Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	3.51e-8	SMART
IGc1	163	236	4.07e-4	SMART
IGc1	266	339	2.21e-5	SMART
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108349
AA Change: Y378F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: Y378F

Domain	Start	End	E-Value	Type
low complexity region	15	23	N/A	INTRINSIC
IG	35	141	3.51e-8	SMART
IGc1	161	234	4.07e-4	SMART
IGc1	264	337	2.21e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108350
AA Change: Y380F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: Y380F

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	3.51e-8	SMART
IGc1	163	236	4.07e-4	SMART
IGc1	266	339	2.21e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108352

SMART Domains

Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	3.51e-8	SMART
IGc1	163	236	4.07e-4	SMART
IGc1	266	339	2.21e-5	SMART
transmembrane domain	370	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108354

SMART Domains

Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	3.51e-8	SMART
IGc1	163	236	4.07e-4	SMART
IGc1	266	339	2.21e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148194

SMART Domains

Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677

Domain	Start	End	E-Value	Type
IGc1	32	105	4.07e-4	SMART
IGc1	135	208	2.21e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,926,957 (GRCm39)	D1018G	probably damaging	Het
Atm	T	C	9: 53,433,539 (GRCm39)	N237S	possibly damaging	Het
Card6	G	T	15: 5,127,905 (GRCm39)	Q1164K	unknown	Het
Ccdc202	A	G	14: 96,119,548 (GRCm39)	R102G	probably benign	Het
Cped1	G	A	6: 22,222,430 (GRCm39)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,981,108 (GRCm39)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,517,072 (GRCm39)	T87A	probably damaging	Het
Dock4	T	C	12: 40,856,974 (GRCm39)	I1269T	probably damaging	Het
F11	T	C	8: 45,705,127 (GRCm39)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,177,974 (GRCm39)	S342P	probably damaging	Het
Garin2	T	C	12: 78,758,907 (GRCm39)	S76P	probably damaging	Het
Gipr	T	C	7: 18,896,884 (GRCm39)	I129V	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm39)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,206,288 (GRCm39)	G185E	probably damaging	Het
Hapstr1	T	A	16: 8,660,966 (GRCm39)	C148S	probably damaging	Het
Hgd	T	A	16: 37,413,797 (GRCm39)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,522,460 (GRCm39)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,159,783 (GRCm39)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,310,833 (GRCm39)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,664,971 (GRCm39)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,704,973 (GRCm39)	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,266,812 (GRCm39)	V1670A	probably benign	Het
Lman2	A	T	13: 55,500,890 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,692,119 (GRCm39)	Y1579F	probably damaging	Het
Mon2	G	A	10: 122,868,493 (GRCm39)	A520V	probably benign	Het
Mrpl10	T	G	11: 96,938,363 (GRCm39)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,537,838 (GRCm39)	T153S	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,523,695 (GRCm39)	V595A	probably benign	Het
Nol4	A	T	18: 23,173,080 (GRCm39)	M7K	probably benign	Het
Oasl1	G	A	5: 115,067,980 (GRCm39)	S188N	probably damaging	Het
Or2d3c	C	A	7: 106,526,618 (GRCm39)	G16V	probably benign	Het
Or5h25	T	C	16: 58,930,134 (GRCm39)	I280V	probably benign	Het
Pcdhga2	A	G	18: 37,802,993 (GRCm39)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,406,538 (GRCm39)	A263V	probably benign	Het
Phf3	T	G	1: 30,868,938 (GRCm39)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,490,367 (GRCm39)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,221,445 (GRCm39)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,596,250 (GRCm39)	I305N	probably damaging	Het
Prex2	A	G	1: 11,252,161 (GRCm39)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,690,403 (GRCm39)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,693,903 (GRCm39)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,560,864 (GRCm39)	Y325C	possibly damaging	Het
Semp2l1	T	C	1: 32,585,178 (GRCm39)	D244G	probably benign	Het
Shcbp1	A	C	8: 4,798,720 (GRCm39)	S400A	probably damaging	Het
Shfl	C	T	9: 20,780,155 (GRCm39)		probably benign	Het
Tbl2	G	C	5: 135,188,329 (GRCm39)	L374F	probably damaging	Het
Tpr	C	A	1: 150,305,283 (GRCm39)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,460 (GRCm39)	E276V	probably damaging	Het
Vps16	C	T	2: 130,283,623 (GRCm39)	Q606*	probably null	Het
Vstm5	A	T	9: 15,150,652 (GRCm39)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,473,249 (GRCm39)	S250Y	probably damaging	Het

Other mutations in Sirpb1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Sirpb1c	APN	3	15,892,937 (GRCm39)	missense	probably benign	0.06
R0094:Sirpb1c	UTSW	3	15,892,922 (GRCm39)	missense	possibly damaging	0.73
R0356:Sirpb1c	UTSW	3	15,887,309 (GRCm39)	missense	possibly damaging	0.95
R0442:Sirpb1c	UTSW	3	15,856,710 (GRCm39)	missense	probably benign	0.09
R3731:Sirpb1c	UTSW	3	15,887,287 (GRCm39)	missense	probably damaging	1.00
R4812:Sirpb1c	UTSW	3	15,887,386 (GRCm39)	missense	probably damaging	0.99
R5802:Sirpb1c	UTSW	3	15,886,240 (GRCm39)	missense	probably benign	0.00
R6315:Sirpb1c	UTSW	3	15,886,470 (GRCm39)	missense	possibly damaging	0.71
R7107:Sirpb1c	UTSW	3	15,892,941 (GRCm39)	missense	possibly damaging	0.91
R7148:Sirpb1c	UTSW	3	15,887,223 (GRCm39)	nonsense	probably null
R7349:Sirpb1c	UTSW	3	15,886,310 (GRCm39)	critical splice donor site	probably null
R7356:Sirpb1c	UTSW	3	15,886,297 (GRCm39)	missense	probably benign
R7359:Sirpb1c	UTSW	3	15,887,389 (GRCm39)	missense	probably benign	0.02
R7466:Sirpb1c	UTSW	3	15,886,430 (GRCm39)	missense	probably damaging	1.00
R7629:Sirpb1c	UTSW	3	15,902,559 (GRCm39)	missense	possibly damaging	0.86
R7726:Sirpb1c	UTSW	3	15,902,550 (GRCm39)	missense	possibly damaging	0.92
R7853:Sirpb1c	UTSW	3	15,887,156 (GRCm39)	missense	probably damaging	1.00
R7886:Sirpb1c	UTSW	3	15,886,366 (GRCm39)	missense	probably benign	0.10
R8519:Sirpb1c	UTSW	3	15,902,526 (GRCm39)	missense	possibly damaging	0.72
R8847:Sirpb1c	UTSW	3	15,886,584 (GRCm39)	nonsense	probably null
R8854:Sirpb1c	UTSW	3	15,887,308 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGGTGGCCTGTTGAAATTTCAC -3'
(R):5'- CATGGTAGTGACATGCCAGG -3'

Sequencing Primer
(F):5'- GCCTGTTGAAATTTCACTCCATTAGG -3'
(R):5'- TGACATGCCAGGTTGAGC -3'

Posted On

2019-11-12