Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0062 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

129300279-129378522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129305624 bp (GRCm39)

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]

AlphaFold

Q8BJ95

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: 120,614,511 (GRCm39)		probably benign	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Chl1	A	T	6: 103,726,613 (GRCm39)	Y1143F	unknown	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Pcdha1	T	A	18: 37,139,681 (GRCm39)	W437R	probably benign	Het
Pcdhga11	T	G	18: 37,941,528 (GRCm39)	I643S	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	probably benign	Het

Other mutations in F830045P16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:F830045P16Rik	APN	2	129,302,449 (GRCm39)	missense	probably damaging	0.97
IGL01149:F830045P16Rik	APN	2	129,302,232 (GRCm39)	critical splice donor site	probably null
IGL01556:F830045P16Rik	APN	2	129,305,640 (GRCm39)	missense	probably benign	0.01
IGL01690:F830045P16Rik	APN	2	129,314,614 (GRCm39)	missense	probably damaging	1.00
IGL02169:F830045P16Rik	APN	2	129,305,492 (GRCm39)	missense	probably damaging	1.00
IGL03194:F830045P16Rik	APN	2	129,302,240 (GRCm39)	missense	possibly damaging	0.91
IGL03231:F830045P16Rik	APN	2	129,302,393 (GRCm39)	missense	probably damaging	1.00
R0062:F830045P16Rik	UTSW	2	129,305,624 (GRCm39)	missense	possibly damaging	0.94
R0234:F830045P16Rik	UTSW	2	129,305,384 (GRCm39)	missense	possibly damaging	0.85
R0234:F830045P16Rik	UTSW	2	129,305,384 (GRCm39)	missense	possibly damaging	0.85
R0333:F830045P16Rik	UTSW	2	129,314,777 (GRCm39)	missense	probably damaging	0.96
R0479:F830045P16Rik	UTSW	2	129,314,608 (GRCm39)	missense	possibly damaging	0.86
R0550:F830045P16Rik	UTSW	2	129,305,429 (GRCm39)	missense	probably damaging	1.00
R0827:F830045P16Rik	UTSW	2	129,314,696 (GRCm39)	missense	probably benign	0.01
R1087:F830045P16Rik	UTSW	2	129,314,639 (GRCm39)	missense	possibly damaging	0.55
R1142:F830045P16Rik	UTSW	2	129,302,252 (GRCm39)	nonsense	probably null
R1642:F830045P16Rik	UTSW	2	129,305,634 (GRCm39)	missense	probably benign	0.00
R2022:F830045P16Rik	UTSW	2	129,314,585 (GRCm39)	missense	probably damaging	1.00
R2044:F830045P16Rik	UTSW	2	129,301,317 (GRCm39)	missense	possibly damaging	0.68
R4008:F830045P16Rik	UTSW	2	129,305,467 (GRCm39)	missense	probably damaging	1.00
R4009:F830045P16Rik	UTSW	2	129,305,467 (GRCm39)	missense	probably damaging	1.00
R4011:F830045P16Rik	UTSW	2	129,305,467 (GRCm39)	missense	probably damaging	1.00
R4212:F830045P16Rik	UTSW	2	129,302,273 (GRCm39)	missense	probably benign	0.00
R4579:F830045P16Rik	UTSW	2	129,305,423 (GRCm39)	missense	probably damaging	0.97
R4838:F830045P16Rik	UTSW	2	129,302,470 (GRCm39)	missense	possibly damaging	0.95
R5190:F830045P16Rik	UTSW	2	129,314,635 (GRCm39)	missense	probably benign	0.01
R5217:F830045P16Rik	UTSW	2	129,305,493 (GRCm39)	missense	probably damaging	1.00
R5297:F830045P16Rik	UTSW	2	129,302,473 (GRCm39)	missense	probably benign	0.10
R5352:F830045P16Rik	UTSW	2	129,314,821 (GRCm39)	missense	probably damaging	0.98
R6063:F830045P16Rik	UTSW	2	129,316,310 (GRCm39)	missense	probably damaging	1.00
R6072:F830045P16Rik	UTSW	2	129,314,614 (GRCm39)	missense	probably damaging	1.00
R6173:F830045P16Rik	UTSW	2	129,305,588 (GRCm39)	missense	probably damaging	1.00
R6383:F830045P16Rik	UTSW	2	129,378,358 (GRCm39)	missense	probably benign	0.04
R6386:F830045P16Rik	UTSW	2	129,314,738 (GRCm39)	missense	probably damaging	1.00
R6425:F830045P16Rik	UTSW	2	129,302,500 (GRCm39)	missense	probably damaging	1.00
R6699:F830045P16Rik	UTSW	2	129,302,341 (GRCm39)	missense	probably damaging	0.98
R6869:F830045P16Rik	UTSW	2	129,316,481 (GRCm39)	missense	probably damaging	0.99
R7751:F830045P16Rik	UTSW	2	129,302,367 (GRCm39)	missense	probably damaging	1.00
R8012:F830045P16Rik	UTSW	2	129,316,352 (GRCm39)	missense	possibly damaging	0.92
R8097:F830045P16Rik	UTSW	2	129,305,505 (GRCm39)	missense	possibly damaging	0.55
R8982:F830045P16Rik	UTSW	2	129,314,812 (GRCm39)	missense	probably damaging	0.98
R9143:F830045P16Rik	UTSW	2	129,316,502 (GRCm39)	missense	probably benign	0.00
R9179:F830045P16Rik	UTSW	2	129,314,708 (GRCm39)	missense	probably benign
R9280:F830045P16Rik	UTSW	2	129,314,774 (GRCm39)	missense	probably damaging	1.00
Z1176:F830045P16Rik	UTSW	2	129,378,450 (GRCm39)	start gained	probably benign

Posted On

2013-03-25