Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Sirpb1c'

510574

Institutional Source

Beutler Lab

Gene Symbol

Sirpb1c

Ensembl Gene

ENSMUSG00000074677

Gene Name

signal-regulatory protein beta 1C

Synonyms

MMRRC Submission

044472-MU

Accession Numbers

Essential gene?

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

Stock #

R6315 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

15849311-15902694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15886470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000103991 (fasta)

Gene Model

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

AlphaFold

K7N6K7

Predicted Effect

probably benign
Transcript: ENSMUST00000050623
AA Change: V302A

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: V302A

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

possibly damaging
Transcript: ENSMUST00000108349
AA Change: V300A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: V300A

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: V302A

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: V302A

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

possibly damaging
Transcript: ENSMUST00000108352
AA Change: V302A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: V302A

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

possibly damaging
Transcript: ENSMUST00000108354
AA Change: V302A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: V302A

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

noncoding transcript
Transcript: ENSMUST00000124067

Predicted Effect

unknown
Transcript: ENSMUST00000148194
AA Change: V170A

SMART Domains

Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
AA Change: V170A

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: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tdrd6	A	T	17: 43,937,229 (GRCm39)	M1273K	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	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
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

PCR Primer
(F):5'- GGTAGCAGTACCTTTCACTCTC -3'
(R):5'- GGTGGATCCTTAACATTCAGCTC -3'

Sequencing Primer
(F):5'- CTGATGTTCAGTGACCACCAC -3'
(R):5'- AGAATGTCTGTGCCTAGGTTCCATC -3'

Posted On

2018-04-02