Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:F830045P16Rik'

224081

Institutional Source

Beutler Lab

Gene Symbol

F830045P16Rik

Ensembl Gene

ENSMUSG00000043727

Gene Name

RIKEN cDNA F830045P16 gene

Synonyms

Sirpb3

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

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

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129300279-129378522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129314585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 231 (I231F)

Ref Sequence

ENSEMBL: ENSMUSP00000058047 (fasta)

Gene Model

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

AlphaFold

Q8BJ95

Predicted Effect

probably damaging
Transcript: ENSMUST00000050309
AA Change: I231F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058047
Gene: ENSMUSG00000043727
AA Change: I231F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Pigg	A	T	5: 108,460,788 (GRCm39)		probably benign	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tshz1	T	A	18: 84,031,987 (GRCm39)	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGCAAAGGAGAGTCATTTC -3'
(R):5'- CTGACTTGCCATGTAAACCAC -3'

Sequencing Primer
(F):5'- CAGCAAAGGAGAGTCATTTCTTGGTG -3'
(R):5'- CATGGACCTCATCTGGACTAAGAATG -3'

Posted On

2014-08-25