Mutagenetix > Incidental Mutations

Incidental Mutation 'R0062:F830045P16Rik'

18093

Institutional Source

Beutler Lab

Gene Symbol

F830045P16Rik

Ensembl Gene

ENSMUSG00000043727

Gene Name

RIKEN cDNA F830045P16 gene

Synonyms

Sirpb3

MMRRC Submission

038354-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0062 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129458359-129536602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129463704 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 250 (E250G)

Ref Sequence

ENSEMBL: ENSMUSP00000058047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050309]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050309
AA Change: E250G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058047
Gene: ENSMUSG00000043727
AA Change: E250G

Domain	Start	End	E-Value	Type
IG_like	51	123	7.95e-2	SMART
IGc1	156	227	5.66e-4	SMART
Pfam:C2-set_2	264	331	1.6e-6	PFAM
IGc1	359	432	2.28e-7	SMART
transmembrane domain	460	482	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 83.4%
20x: 77.5%

Validation Efficiency

91% (72/79)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,778,606		probably benign	Het
Abi2	T	A	1: 60,453,725	N182K	probably benign	Het
Adam25	A	T	8: 40,754,792	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,712,204	Y20N	probably damaging	Het
Arhgef28	A	T	13: 97,956,642	I977N	possibly damaging	Het
Armc4	T	A	18: 7,129,593		probably benign	Het
Cacna1b	A	G	2: 24,758,331	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,602,237	D1480G	probably damaging	Het
Chl1	A	T	6: 103,749,652	Y1143F	unknown	Het
Clk3	A	G	9: 57,752,166	M533T	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cnbd1	A	G	4: 18,860,504	I414T	possibly damaging	Het
Commd3	A	T	2: 18,674,703		probably null	Het
Dnah8	T	A	17: 30,765,711	F3128I	probably damaging	Het
Dock1	A	G	7: 134,777,495		probably null	Het
Dpysl3	C	T	18: 43,333,876		probably null	Het
Ebf2	T	A	14: 67,238,540		probably benign	Het
Fmn2	A	T	1: 174,608,449		probably benign	Het
Fryl	T	C	5: 73,022,278	I2929V	probably benign	Het
Gm11232	T	A	4: 71,756,875	Q130L	possibly damaging	Het
Gna15	A	G	10: 81,512,405		probably null	Het
Gtf3c5	T	C	2: 28,572,186		probably benign	Het
Irs2	G	A	8: 11,005,723	T903I	possibly damaging	Het
Itga2	G	A	13: 114,870,496	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,627,197	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,226	V593M	possibly damaging	Het
Kprp	T	C	3: 92,824,682	S354G	probably damaging	Het
Krt72	T	C	15: 101,786,008	K151E	probably damaging	Het
Letm2	A	T	8: 25,587,448		probably benign	Het
Lipe	A	G	7: 25,398,449	V23A	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mthfd1	G	A	12: 76,297,589		probably benign	Het
Nbeal1	C	A	1: 60,247,717	N899K	probably benign	Het
Olfr1223	T	C	2: 89,144,622	I134V	possibly damaging	Het
Olfr1338	T	C	4: 118,753,903	I212V	probably benign	Het
Pcdha1	T	A	18: 37,006,628	W437R	probably benign	Het
Pcdhga11	T	G	18: 37,808,475	I643S	probably benign	Het
Pik3r6	T	A	11: 68,528,809	Y149N	probably damaging	Het
Pja2	C	A	17: 64,308,971	V310L	probably damaging	Het
Ripor3	A	G	2: 167,984,438		probably benign	Het
Rpa2	C	A	4: 132,777,814	N251K	probably damaging	Het
Rttn	T	C	18: 89,010,966		probably null	Het
Ryr2	C	T	13: 11,869,116		probably null	Het
Scara3	T	C	14: 65,930,968	N400S	probably damaging	Het
Slc8b1	T	A	5: 120,521,863		probably null	Het
Slco1a4	G	A	6: 141,819,479	Q346*	probably null	Het
Stk32b	A	G	5: 37,461,448	S229P	probably damaging	Het
Syde2	A	G	3: 145,998,753	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,222,302		probably benign	Het
Ticrr	T	C	7: 79,667,906	V396A	probably benign	Het
Trrap	T	C	5: 144,782,193		probably benign	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,864,749	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,079,827	T114I	possibly damaging	Het
Zfc3h1	A	G	10: 115,416,753	K1324E	probably benign	Het

Other mutations in F830045P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:F830045P16Rik	APN	2	129460529	missense	probably damaging	0.97
IGL01149:F830045P16Rik	APN	2	129460312	critical splice donor site	probably null
IGL01556:F830045P16Rik	APN	2	129463720	missense	probably benign	0.01
IGL01690:F830045P16Rik	APN	2	129472694	missense	probably damaging	1.00
IGL02169:F830045P16Rik	APN	2	129463572	missense	probably damaging	1.00
IGL03194:F830045P16Rik	APN	2	129460320	missense	possibly damaging	0.91
IGL03231:F830045P16Rik	APN	2	129460473	missense	probably damaging	1.00
R0062:F830045P16Rik	UTSW	2	129463704	missense	possibly damaging	0.94
R0234:F830045P16Rik	UTSW	2	129463464	missense	possibly damaging	0.85
R0234:F830045P16Rik	UTSW	2	129463464	missense	possibly damaging	0.85
R0333:F830045P16Rik	UTSW	2	129472857	missense	probably damaging	0.96
R0479:F830045P16Rik	UTSW	2	129472688	missense	possibly damaging	0.86
R0550:F830045P16Rik	UTSW	2	129463509	missense	probably damaging	1.00
R0827:F830045P16Rik	UTSW	2	129472776	missense	probably benign	0.01
R1087:F830045P16Rik	UTSW	2	129472719	missense	possibly damaging	0.55
R1142:F830045P16Rik	UTSW	2	129460332	nonsense	probably null
R1642:F830045P16Rik	UTSW	2	129463714	missense	probably benign	0.00
R2022:F830045P16Rik	UTSW	2	129472665	missense	probably damaging	1.00
R2044:F830045P16Rik	UTSW	2	129459397	missense	possibly damaging	0.68
R4008:F830045P16Rik	UTSW	2	129463547	missense	probably damaging	1.00
R4009:F830045P16Rik	UTSW	2	129463547	missense	probably damaging	1.00
R4011:F830045P16Rik	UTSW	2	129463547	missense	probably damaging	1.00
R4212:F830045P16Rik	UTSW	2	129460353	missense	probably benign	0.00
R4579:F830045P16Rik	UTSW	2	129463503	missense	probably damaging	0.97
R4838:F830045P16Rik	UTSW	2	129460550	missense	possibly damaging	0.95
R5190:F830045P16Rik	UTSW	2	129472715	missense	probably benign	0.01
R5217:F830045P16Rik	UTSW	2	129463573	missense	probably damaging	1.00
R5297:F830045P16Rik	UTSW	2	129460553	missense	probably benign	0.10
R5352:F830045P16Rik	UTSW	2	129472901	missense	probably damaging	0.98
R6063:F830045P16Rik	UTSW	2	129474390	missense	probably damaging	1.00
R6072:F830045P16Rik	UTSW	2	129472694	missense	probably damaging	1.00
R6173:F830045P16Rik	UTSW	2	129463668	missense	probably damaging	1.00
R6383:F830045P16Rik	UTSW	2	129536438	missense	probably benign	0.04
R6386:F830045P16Rik	UTSW	2	129472818	missense	probably damaging	1.00
R6425:F830045P16Rik	UTSW	2	129460580	missense	probably damaging	1.00
R6699:F830045P16Rik	UTSW	2	129460421	missense	probably damaging	0.98
R6869:F830045P16Rik	UTSW	2	129474561	missense	probably damaging	0.99

Posted On

2013-03-25