Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:F830045P16Rik'

59008

Institutional Source

Beutler Lab

Gene Symbol

F830045P16Rik

Ensembl Gene

ENSMUSG00000043727

Gene Name

RIKEN cDNA F830045P16 gene

Synonyms

Sirpb3

MMRRC Submission

038475-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0234 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

129300279-129378522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129305384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 330 (V330A)

Ref Sequence

ENSEMBL: ENSMUSP00000058047 (fasta)

Gene Model

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

AlphaFold

Q8BJ95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050309
AA Change: V330A

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058047
Gene: ENSMUSG00000043727
AA Change: V330A

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
Alyref	T	C	11: 120,489,133 (GRCm39)	D11G	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Cfap54	A	T	10: 92,735,022 (GRCm39)	L2343*	probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,457,935 (GRCm39)		probably benign	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rasgrf1	A	T	9: 89,891,419 (GRCm39)	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Sirpa	T	C	2: 129,457,388 (GRCm39)	V154A	probably damaging	Het
Slc13a5	C	G	11: 72,141,626 (GRCm39)	V405L	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	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
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

Predicted Primers

PCR Primer
(F):5'- TGATCCAAGGACACGACATAGTCCC -3'
(R):5'- ACCTGGAGCAAGCATCCAATTGAAG -3'

Sequencing Primer
(F):5'- TCCCATTGGGTAAGTAGCCTAAG -3'
(R):5'- CTGCATTACAAACTCGTCAGGTTAC -3'

Posted On

2013-07-11