Mutagenetix > Incidental Mutation

Incidental Mutation 'R0442:Sirpb1c'

177919

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1c

Ensembl Gene

ENSMUSG00000074677

Gene Name

signal-regulatory protein beta 1C

Synonyms

MMRRC Submission

038643-MU

Accession Numbers

Essential gene?

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

Stock #

R0442 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15849311-15902694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15856710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 380 (I380T)

Ref Sequence

ENSEMBL: ENSMUSP00000103989 (fasta)

Gene Model

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

AlphaFold

K7N6K7

Predicted Effect

probably benign
Transcript: ENSMUST00000050623
AA Change: I374T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: I374T

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: ENSMUST00000108352
AA Change: I380T

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: I380T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.5%
10x: 93.4%
20x: 81.2%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,435,551 (GRCm39)	N816Y	probably damaging	Het
Arfgef3	T	C	10: 18,553,563 (GRCm39)		probably benign	Het
Cd200	T	A	16: 45,217,518 (GRCm39)	S58C	probably damaging	Het
Cep128	C	T	12: 91,233,545 (GRCm39)	E508K	probably damaging	Het
Dnah2	C	A	11: 69,339,368 (GRCm39)	L3046F	probably damaging	Het
Duox2	T	C	2: 122,119,813 (GRCm39)	N872D	probably benign	Het
Fam90a1a	C	T	8: 22,453,074 (GRCm39)	T143I	probably benign	Het
Fdft1	T	C	14: 63,400,798 (GRCm39)	T112A	probably benign	Het
Gimap9	G	T	6: 48,655,000 (GRCm39)	G196*	probably null	Het
Grhl1	G	A	12: 24,662,169 (GRCm39)	R536Q	probably damaging	Het
Gtpbp3	T	A	8: 71,944,135 (GRCm39)	V293E	probably damaging	Het
Hcn3	A	T	3: 89,058,847 (GRCm39)	F251Y	probably damaging	Het
Hectd4	T	A	5: 121,462,045 (GRCm39)	C971S	possibly damaging	Het
Helz2	T	A	2: 180,874,002 (GRCm39)	D2164V	probably damaging	Het
Hif1an	T	G	19: 44,554,451 (GRCm39)	L188R	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 88,023,266 (GRCm39)	P519L	probably damaging	Het
Jakmip1	T	G	5: 37,292,897 (GRCm39)		probably null	Het
Klra1	T	C	6: 130,349,835 (GRCm39)	Y201C	probably damaging	Het
Minpp1	T	C	19: 32,471,348 (GRCm39)	F299L	possibly damaging	Het
Myb	A	G	10: 21,002,095 (GRCm39)	S749P	probably benign	Het
Myo3b	T	C	2: 70,069,305 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,581,024 (GRCm39)	R74S	probably benign	Het
Nt5m	A	G	11: 59,765,445 (GRCm39)	T158A	possibly damaging	Het
Obscn	A	T	11: 58,893,000 (GRCm39)		probably benign	Het
Or5af1	T	A	11: 58,722,257 (GRCm39)	Y92*	probably null	Het
Or5b119	T	G	19: 13,457,412 (GRCm39)	D50A	probably damaging	Het
Or6c210	T	C	10: 129,495,693 (GRCm39)	I6T	probably benign	Het
Otogl	T	A	10: 107,712,716 (GRCm39)	T543S	probably damaging	Het
Pds5b	T	C	5: 150,640,009 (GRCm39)		probably benign	Het
Plekhm1	A	G	11: 103,288,000 (GRCm39)	M49T	possibly damaging	Het
Rabl6	A	T	2: 25,477,534 (GRCm39)	S305R	probably damaging	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rad54b	C	A	4: 11,610,362 (GRCm39)	R660S	probably benign	Het
Rexo5	T	C	7: 119,442,508 (GRCm39)	L542P	probably damaging	Het
Rp1	C	T	1: 4,416,970 (GRCm39)	D1381N	probably benign	Het
Scnn1a	T	G	6: 125,316,100 (GRCm39)	M346R	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sstr3	A	T	15: 78,424,597 (GRCm39)	L50Q	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Sun5	T	C	2: 153,712,872 (GRCm39)	D16G	possibly damaging	Het
Svil	A	T	18: 5,046,870 (GRCm39)	T39S	probably damaging	Het
Taar1	A	G	10: 23,796,380 (GRCm39)	Y26C	possibly damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Use1	T	C	8: 71,819,702 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,657,277 (GRCm39)	Y7C	probably damaging	Het
Zbtb37	A	G	1: 160,859,918 (GRCm39)	F129S	possibly damaging	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp28	T	C	7: 6,397,998 (GRCm39)	L811P	probably damaging	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly 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
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
R7720:Sirpb1c	UTSW	3	15,886,236 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-04-30