Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Sirpb1c'

609045

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1c

Ensembl Gene

ENSMUSG00000074677

Gene Name

signal-regulatory protein beta 1C

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7886 (G1)

Quality Score

110.008

Status

Not validated

Chromosome

Chromosomal Location

15795145-15848528 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 15832202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 337 (A337T)

Ref Sequence

ENSEMBL: ENSMUSP00000103989 (fasta)

Gene Model

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

AlphaFold

K7N6K7

Predicted Effect

probably benign
Transcript: ENSMUST00000050623
AA Change: A337T

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: A337T

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: A335T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: A335T

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

possibly damaging
Transcript: ENSMUST00000108350
AA Change: A337T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: A337T

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
AA Change: A337T

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: A337T

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
AA Change: A337T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: A337T

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

SMART Domains

Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
AA Change: A205T

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: 98.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,834,456	I130S	unknown	Het
Ano5	A	G	7: 51,570,393	H427R	probably benign	Het
Atad2	A	T	15: 58,126,136	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,167,054	Y147H	probably damaging	Het
C1s2	T	C	6: 124,628,330	S349G	possibly damaging	Het
Ccdc51	G	T	9: 109,091,587	A181S	probably damaging	Het
Dcc	G	A	18: 71,954,868	Q100*	probably null	Het
Dchs2	A	T	3: 83,305,085	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,516,069	V217I	probably benign	Het
Dnajc7	A	T	11: 100,601,803	F31I	probably benign	Het
Eftud2	C	T	11: 102,840,108	R825H	probably damaging	Het
Fam184a	T	C	10: 53,675,160	E237G	probably damaging	Het
Fdx1l	A	T	9: 21,073,327		probably null	Het
Frem1	T	C	4: 83,016,406	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,724,481	R446W	probably damaging	Het
Gm42669	A	G	5: 107,508,706	E362G		Het
Hmcn1	A	T	1: 150,657,470	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,683,269	V171F	probably damaging	Het
Igsf10	T	C	3: 59,328,327	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,427,621	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,304,632		probably null	Het
Macrod2	G	A	2: 141,724,645	G188S	probably damaging	Het
Mapkbp1	T	C	2: 120,012,647	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,615,184	E58G	probably damaging	Het
Muc16	A	T	9: 18,585,982	C6625S	probably benign	Het
Naip5	A	T	13: 100,246,181	S7T	probably benign	Het
Nfs1	T	A	2: 156,142,061	D132V	unknown	Het
Nlgn1	T	C	3: 25,435,907	D552G	probably damaging	Het
Numa1	C	T	7: 102,013,865	T2066I	probably benign	Het
Olfr1355	A	G	10: 78,879,823	Y217C	possibly damaging	Het
Olfr330	C	A	11: 58,529,054	V311L	probably benign	Het
Olfr370	T	C	8: 83,541,947	S268P	possibly damaging	Het
Olfr730	A	T	14: 50,186,564	Y219N	probably damaging	Het
Olfr847	A	T	9: 19,375,906		probably null	Het
Pde11a	C	T	2: 76,291,203	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,418,761	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,319,588	Q643*	probably null	Het
Pold2	T	C	11: 5,872,714	Y402C	probably damaging	Het
Pom121	T	C	5: 135,381,994	T770A	unknown	Het
Pou4f1	A	T	14: 104,466,792	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,519,283	Q265K	probably benign	Het
Pygl	A	G	12: 70,206,356		probably null	Het
Rdh19	A	G	10: 127,850,300	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,334,497	T61A	probably damaging	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,383	E381G	possibly damaging	Het
Tnik	A	G	3: 28,666,139	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,040,162	G54C	probably damaging	Het
Usp25	A	T	16: 77,113,771	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 20,101,565	N136K	probably benign	Het
Wdr70	C	T	15: 8,079,249	E138K	probably benign	Het
Wrb	T	A	16: 96,145,568	L31Q	possibly damaging	Het
Zbed3	A	G	13: 95,336,125	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,292,054	K184R	possibly damaging	Het

Other mutations in Sirpb1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Sirpb1c	APN	3	15838773	missense	probably benign	0.06
R0094:Sirpb1c	UTSW	3	15838758	missense	possibly damaging	0.73
R0356:Sirpb1c	UTSW	3	15833145	missense	possibly damaging	0.95
R0442:Sirpb1c	UTSW	3	15802546	missense	probably benign	0.09
R3731:Sirpb1c	UTSW	3	15833123	missense	probably damaging	1.00
R4812:Sirpb1c	UTSW	3	15833222	missense	probably damaging	0.99
R5802:Sirpb1c	UTSW	3	15832076	missense	probably benign	0.00
R6315:Sirpb1c	UTSW	3	15832306	missense	possibly damaging	0.71
R7107:Sirpb1c	UTSW	3	15838777	missense	possibly damaging	0.91
R7148:Sirpb1c	UTSW	3	15833059	nonsense	probably null
R7349:Sirpb1c	UTSW	3	15832146	critical splice donor site	probably null
R7356:Sirpb1c	UTSW	3	15832133	missense	probably benign
R7359:Sirpb1c	UTSW	3	15833225	missense	probably benign	0.02
R7466:Sirpb1c	UTSW	3	15832266	missense	probably damaging	1.00
R7629:Sirpb1c	UTSW	3	15848395	missense	possibly damaging	0.86
R7720:Sirpb1c	UTSW	3	15832072	missense	probably benign	0.00
R7726:Sirpb1c	UTSW	3	15848386	missense	possibly damaging	0.92
R7853:Sirpb1c	UTSW	3	15832992	missense	probably damaging	1.00
R8519:Sirpb1c	UTSW	3	15848362	missense	possibly damaging	0.72
R8847:Sirpb1c	UTSW	3	15832420	nonsense	probably null
R8854:Sirpb1c	UTSW	3	15833144	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ACGTGTGAGAAGTTGGGAAT -3'
(R):5'- GTTCTATCCTCCAAGGTTTCAGG -3'

Sequencing Primer
(F):5'- GTTGGGAATGAAATATGACGTTAAC -3'
(R):5'- CTCCAAGGTTTCAGGTGACC -3'

Posted On

2019-12-20