Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:A830018L16Rik'

206278

Institutional Source

Beutler Lab

Gene Symbol

A830018L16Rik

Ensembl Gene

ENSMUSG00000057715

Gene Name

RIKEN cDNA A830018L16 gene

Synonyms

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

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

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11484329-12046125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12045177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 443 (A443E)

Ref Sequence

ENSEMBL: ENSMUSP00000137287 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000048613
AA Change: A456E

SMART Domains

Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: A456E

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

unknown
Transcript: ENSMUST00000137824
AA Change: A459E

SMART Domains

Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: A459E

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

unknown
Transcript: ENSMUST00000179089
AA Change: A443E

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adam23	A	C	1: 63,596,615 (GRCm39)	I566L	probably benign	Het
Adar	G	T	3: 89,646,589 (GRCm39)	R338L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,486,697 (GRCm39)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,269,050 (GRCm39)		probably null	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Plekhg1	C	A	10: 3,895,917 (GRCm39)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (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
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
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'- AAAACACGGGCCTAATCTGG -3'
(R):5'- CTGAGCAGATCAAAGAGTATCAAATCC -3'

Sequencing Primer
(F):5'- CTGGCTAATGAAGGTAAGATAAGTGC -3'
(R):5'- GAGTATCAAATCCCATAGACAACAG -3'

Posted On

2014-06-23