Mutagenetix > Incidental Mutation

Incidental Mutation 'R4652:A830018L16Rik'

351344

Institutional Source

Beutler Lab

Gene Symbol

A830018L16Rik

Ensembl Gene

ENSMUSG00000057715

Gene Name

RIKEN cDNA A830018L16 gene

Synonyms

MMRRC Submission

041912-MU

Accession Numbers

Essential gene?

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

Stock #

R4652 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

11484329-12046125 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 11607566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000135014] [ENSMUST00000137824] [ENSMUST00000141512] [ENSMUST00000171690] [ENSMUST00000179089]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000135014

SMART Domains

Protein: ENSMUSP00000119143
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 benign
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 benign
Transcript: ENSMUST00000141339

SMART Domains

Protein: ENSMUSP00000121311
Gene: ENSMUSG00000057715

Domain	Start	End	E-Value	Type
low complexity region	110	120	N/A	INTRINSIC
low complexity region	130	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141512

SMART Domains

Protein: ENSMUSP00000139635
Gene: ENSMUSG00000057715

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142117

Predicted Effect

probably benign
Transcript: ENSMUST00000171690

SMART Domains

Protein: ENSMUSP00000132334
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 benign
Transcript: ENSMUST00000179089

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (111/117)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 125,366,350 (GRCm39)	Q131L	probably damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Adam26b	A	G	8: 43,974,375 (GRCm39)	V209A	possibly damaging	Het
Adh6a	T	A	3: 138,031,876 (GRCm39)	M256K	probably benign	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Angptl2	G	T	2: 33,133,895 (GRCm39)	D406Y	probably damaging	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arfgef1	C	T	1: 10,243,487 (GRCm39)	D1021N	probably damaging	Het
Arhgap17	G	A	7: 122,885,841 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp13a4	A	T	16: 29,271,421 (GRCm39)	D498E	probably damaging	Het
C4a	T	A	17: 35,029,108 (GRCm39)		noncoding transcript	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Camsap3	A	C	8: 3,650,689 (GRCm39)	K223T	possibly damaging	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Cdh8	T	A	8: 99,751,491 (GRCm39)	D742V	probably benign	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cers3	G	A	7: 66,431,604 (GRCm39)		probably null	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Cntn5	C	A	9: 9,704,917 (GRCm39)	K832N	possibly damaging	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Ctf2	T	C	7: 127,318,556 (GRCm39)	T148A	probably benign	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Dhx36	A	T	3: 62,408,419 (GRCm39)	L140M	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dlgap1	T	A	17: 71,068,090 (GRCm39)	Y554N	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnah6	T	C	6: 73,047,580 (GRCm39)	M3140V	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dyrk1a	C	T	16: 94,492,924 (GRCm39)	T719I	probably benign	Het
Erlin1	T	A	19: 44,029,231 (GRCm39)	K234*	probably null	Het
Fndc7	T	C	3: 108,770,135 (GRCm39)	N597S	probably benign	Het
Folh1	C	A	7: 86,393,633 (GRCm39)	G360*	probably null	Het
Frmd4b	T	C	6: 97,272,716 (GRCm39)	H846R	probably benign	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm27047	T	C	6: 130,607,479 (GRCm39)		noncoding transcript	Het
Gm7168	A	G	17: 14,170,069 (GRCm39)	R479G	possibly damaging	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
H2-D1	T	G	17: 35,485,492 (GRCm39)		probably null	Het
Hpf1	T	G	8: 61,346,764 (GRCm39)	S26R	possibly damaging	Het
Ift80	T	A	3: 68,822,273 (GRCm39)	N627I	probably benign	Het
Inpp5d	A	G	1: 87,593,173 (GRCm39)	K91R	probably benign	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Man1a2	A	G	3: 100,539,877 (GRCm39)	L188P	probably damaging	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25	A	T	10: 105,615,509 (GRCm39)	C498*	probably null	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Mvp	T	A	7: 126,592,721 (GRCm39)	I397F	probably damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Nudt5	G	A	2: 5,860,876 (GRCm39)		probably benign	Het
Nyap2	T	A	1: 81,314,444 (GRCm39)	D713E	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Orc4	A	T	2: 48,826,762 (GRCm39)		probably benign	Het
Pde10a	T	A	17: 8,975,885 (GRCm39)	N3K	possibly damaging	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Piwil4	G	A	9: 14,623,604 (GRCm39)	R529*	probably null	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prkg1	T	C	19: 30,572,412 (GRCm39)	T400A	probably damaging	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptcd1	A	T	5: 145,091,985 (GRCm39)	H371Q	probably benign	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Rapgef5	G	A	12: 117,677,863 (GRCm39)	G366E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Sfxn3	A	G	19: 45,039,313 (GRCm39)		probably null	Het
Sgce	T	C	6: 4,689,560 (GRCm39)		probably benign	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc18a1	A	G	8: 69,496,583 (GRCm39)	M360T	possibly damaging	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Tars3	T	A	7: 65,339,717 (GRCm39)	V704E	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Txndc11	A	G	16: 10,892,986 (GRCm39)	S915P	probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vmn2r109	T	A	17: 20,761,656 (GRCm39)	K567M	probably damaging	Het
Vmn2r23	T	C	6: 123,718,689 (GRCm39)	F681L	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	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
R2265:A830018L16Rik	UTSW	1	12,042,328 (GRCm39)	critical splice donor site	probably null
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
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'- CTCACATGCGCTATTGTCTGG -3'
(R):5'- AGACCAGCTTCACTATCAGACA -3'

Sequencing Primer
(F):5'- GCTATTGTCTGGCCAGCAAGAAC -3'
(R):5'- AACTCTGTGGACAGTCTCAAGGTC -3'

Posted On

2015-10-08