Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:A830018L16Rik'

244035

Institutional Source

Beutler Lab

Gene Symbol

A830018L16Rik

Ensembl Gene

ENSMUSG00000057715

Gene Name

RIKEN cDNA A830018L16 gene

Synonyms

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11484329-12046125 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 12042328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000137824] [ENSMUST00000179089]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000048613

SMART Domains

Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC
low complexity region	233	248	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000137824

SMART Domains

Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715

Domain	Start	End	E-Value	Type
low complexity region	58	73	N/A	INTRINSIC
low complexity region	213	223	N/A	INTRINSIC
low complexity region	233	248	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000179089

Predicted Effect

probably null
Transcript: ENSMUST00000185882

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Ddx4	A	G	13: 112,757,810 (GRCm39)	Y290H	probably benign	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly damaging	Het

Other mutations in A830018L16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:A830018L16Rik	APN	1	11,818,278 (GRCm39)	missense	probably damaging	0.98
IGL01916:A830018L16Rik	APN	1	11,818,331 (GRCm39)	splice site	probably benign
IGL02040:A830018L16Rik	APN	1	12,003,822 (GRCm39)	intron	probably benign
IGL02432:A830018L16Rik	APN	1	11,818,303 (GRCm39)	missense	probably damaging	1.00
IGL02693:A830018L16Rik	APN	1	11,666,506 (GRCm39)	missense	probably damaging	1.00
IGL02736:A830018L16Rik	APN	1	12,042,275 (GRCm39)	missense	probably benign	0.02
IGL03293:A830018L16Rik	APN	1	11,615,375 (GRCm39)	splice site	probably null
IGL02835:A830018L16Rik	UTSW	1	12,042,279 (GRCm39)	missense	possibly damaging	0.54
R1203:A830018L16Rik	UTSW	1	11,588,818 (GRCm39)	missense	probably damaging	1.00
R1216:A830018L16Rik	UTSW	1	11,868,716 (GRCm39)	missense	probably damaging	0.99
R1548:A830018L16Rik	UTSW	1	11,588,818 (GRCm39)	missense	probably damaging	1.00
R1644:A830018L16Rik	UTSW	1	11,484,814 (GRCm39)	nonsense	probably null
R1855:A830018L16Rik	UTSW	1	11,818,195 (GRCm39)	missense	probably damaging	1.00
R1858:A830018L16Rik	UTSW	1	12,045,177 (GRCm39)	missense	unknown
R2296:A830018L16Rik	UTSW	1	11,582,275 (GRCm39)	missense	possibly damaging	0.94
R2484:A830018L16Rik	UTSW	1	11,666,526 (GRCm39)	missense	probably damaging	1.00
R3730:A830018L16Rik	UTSW	1	11,615,450 (GRCm39)	missense	probably damaging	1.00
R3752:A830018L16Rik	UTSW	1	11,588,904 (GRCm39)	missense	probably damaging	1.00
R3861:A830018L16Rik	UTSW	1	11,658,778 (GRCm39)	splice site	probably benign
R4305:A830018L16Rik	UTSW	1	12,042,300 (GRCm39)	nonsense	probably null
R4306:A830018L16Rik	UTSW	1	12,042,300 (GRCm39)	nonsense	probably null
R4307:A830018L16Rik	UTSW	1	12,042,300 (GRCm39)	nonsense	probably null
R4558:A830018L16Rik	UTSW	1	12,042,300 (GRCm39)	nonsense	probably null
R4598:A830018L16Rik	UTSW	1	11,818,188 (GRCm39)	critical splice acceptor site	probably null
R4652:A830018L16Rik	UTSW	1	11,607,566 (GRCm39)	intron	probably benign
R5492:A830018L16Rik	UTSW	1	11,615,431 (GRCm39)	missense	probably damaging	0.99
R5493:A830018L16Rik	UTSW	1	11,615,431 (GRCm39)	missense	probably damaging	0.99
R5802:A830018L16Rik	UTSW	1	12,021,188 (GRCm39)	missense	probably damaging	1.00
R6007:A830018L16Rik	UTSW	1	11,582,140 (GRCm39)	critical splice acceptor site	probably null
R6082:A830018L16Rik	UTSW	1	11,868,752 (GRCm39)	missense	probably benign	0.04
R6376:A830018L16Rik	UTSW	1	11,868,718 (GRCm39)	missense	probably damaging	0.98
R6453:A830018L16Rik	UTSW	1	11,868,782 (GRCm39)	missense	possibly damaging	0.91
R6757:A830018L16Rik	UTSW	1	11,666,558 (GRCm39)	makesense	probably null
R6833:A830018L16Rik	UTSW	1	11,658,733 (GRCm39)	missense	probably damaging	1.00
R7163:A830018L16Rik	UTSW	1	11,484,848 (GRCm39)	missense	probably damaging	0.96
R7272:A830018L16Rik	UTSW	1	11,658,695 (GRCm39)	missense	probably damaging	0.97
R7566:A830018L16Rik	UTSW	1	12,021,252 (GRCm39)	missense	probably damaging	1.00
R7665:A830018L16Rik	UTSW	1	12,042,323 (GRCm39)	missense	probably damaging	0.96
R8004:A830018L16Rik	UTSW	1	12,021,286 (GRCm39)	splice site	probably benign
R8754:A830018L16Rik	UTSW	1	11,615,472 (GRCm39)	missense	probably benign	0.33
R8944:A830018L16Rik	UTSW	1	11,484,706 (GRCm39)	unclassified	probably benign
R8993:A830018L16Rik	UTSW	1	11,615,491 (GRCm39)	nonsense	probably null
R8997:A830018L16Rik	UTSW	1	11,615,491 (GRCm39)	nonsense	probably null
R9098:A830018L16Rik	UTSW	1	11,633,211 (GRCm39)	missense	probably damaging	1.00
R9640:A830018L16Rik	UTSW	1	12,021,200 (GRCm39)	missense	probably damaging	0.98
R9704:A830018L16Rik	UTSW	1	11,588,913 (GRCm39)	missense	probably damaging	1.00
R9705:A830018L16Rik	UTSW	1	11,588,913 (GRCm39)	missense	probably damaging	1.00
Z1176:A830018L16Rik	UTSW	1	11,588,849 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGCACTGCATGTTTGAACGT -3'
(R):5'- TGCTGTTGATAATAAATGCCTGTAGC -3'

Sequencing Primer
(F):5'- GAACGTCATTGTGACCAGTTC -3'
(R):5'- TTCCAAAGGCTGGCTGAATGC -3'

Posted On

2014-10-16