Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:A830018L16Rik'

205997

Institutional Source

Beutler Lab

Gene Symbol

A830018L16Rik

Ensembl Gene

ENSMUSG00000057715

Gene Name

RIKEN cDNA A830018L16 gene

Synonyms

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

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

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11484329-12046125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11818195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 285 (L285Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137287 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048613
AA Change: L285Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: L285Q

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 damaging
Transcript: ENSMUST00000137824
AA Change: L285Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: L285Q

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: 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

probably damaging
Transcript: ENSMUST00000179089
AA Change: L285Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,262,380 (GRCm39)	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,878,350 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,385 (GRCm39)	E574G	probably benign	Het
Ankrd1	T	C	19: 36,096,635 (GRCm39)	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,339,523 (GRCm39)	I163T	probably damaging	Het
Ascc3	A	T	10: 50,494,018 (GRCm39)	Q151L	probably benign	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
C1s1	A	C	6: 124,511,315 (GRCm39)		probably null	Het
Ccdc150	T	C	1: 54,407,069 (GRCm39)		probably benign	Het
Cdhr3	A	T	12: 33,110,351 (GRCm39)	I311N	probably damaging	Het
Chad	T	A	11: 94,456,303 (GRCm39)	L127H	probably damaging	Het
Clasp1	G	A	1: 118,436,624 (GRCm39)	A303T	probably damaging	Het
Clptm1	A	G	7: 19,372,134 (GRCm39)	V234A	probably benign	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,708,498 (GRCm39)		probably null	Het
Cttnbp2	T	A	6: 18,378,412 (GRCm39)	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,815 (GRCm39)	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,877,571 (GRCm39)	V391F	probably damaging	Het
Ehmt2	A	T	17: 35,129,752 (GRCm39)	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,505,911 (GRCm39)	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Esrrg	A	T	1: 187,943,295 (GRCm39)	M423L	probably damaging	Het
Etnppl	A	T	3: 130,414,371 (GRCm39)	I89F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbln7	A	G	2: 128,735,755 (GRCm39)	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,763,390 (GRCm39)	T465M	probably damaging	Het
Grcc10	A	G	6: 124,717,541 (GRCm39)	V57A	probably benign	Het
Herc1	T	A	9: 66,298,708 (GRCm39)	M614K	possibly damaging	Het
Itch	C	T	2: 155,014,374 (GRCm39)		probably benign	Het
Kdm6b	C	A	11: 69,298,112 (GRCm39)	A167S	probably damaging	Het
Kidins220	C	T	12: 25,106,590 (GRCm39)	R1348C	probably damaging	Het
Kif17	T	C	4: 138,015,582 (GRCm39)	L577P	probably benign	Het
Krt25	A	T	11: 99,209,141 (GRCm39)	L258Q	probably damaging	Het
Marchf10	T	C	11: 105,281,218 (GRCm39)	T356A	probably benign	Het
Mical2	G	A	7: 111,944,489 (GRCm39)	A940T	probably benign	Het
Mrpl4	A	G	9: 20,914,667 (GRCm39)	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,686,509 (GRCm39)	V447A	probably benign	Het
Mtor	C	A	4: 148,637,546 (GRCm39)	N2502K	probably benign	Het
Notch4	G	A	17: 34,799,936 (GRCm39)	D966N	probably benign	Het
Oip5	C	A	2: 119,442,271 (GRCm39)	K214N	probably benign	Het
Or8a1b	A	T	9: 37,623,266 (GRCm39)	F103Y	possibly damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pak5	A	T	2: 135,929,429 (GRCm39)	S585T	probably benign	Het
Pard3	T	A	8: 128,174,293 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,534,735 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,492,556 (GRCm39)	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,728,408 (GRCm39)		probably null	Het
Pde9a	C	T	17: 31,674,094 (GRCm39)	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,297,957 (GRCm39)	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,352,802 (GRCm39)	M115K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,993 (GRCm39)	W85R	probably damaging	Het
Rnf123	C	A	9: 107,938,990 (GRCm39)	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,805,699 (GRCm39)	D150G	probably damaging	Het
Snap47	C	T	11: 59,319,159 (GRCm39)		probably benign	Het
Spata22	A	G	11: 73,231,385 (GRCm39)	D213G	probably benign	Het
St6galnac2	T	A	11: 116,581,141 (GRCm39)	R60S	probably benign	Het
Stk32c	A	G	7: 138,701,363 (GRCm39)	F263S	probably damaging	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tex2	T	C	11: 106,437,702 (GRCm39)	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,465,410 (GRCm39)	R380C	probably damaging	Het
Trim25	C	T	11: 88,906,407 (GRCm39)	T410I	probably benign	Het
Usp18	T	A	6: 121,239,076 (GRCm39)	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588 (GRCm39)	Y169C	probably damaging	Het
Wdr33	A	T	18: 32,039,909 (GRCm39)		probably benign	Het
Xpr1	A	G	1: 155,159,002 (GRCm39)	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zfp54	T	A	17: 21,654,404 (GRCm39)	Y299*	probably null	Het
Zfp566	T	G	7: 29,777,927 (GRCm39)	S85R	probably benign	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
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
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'- AGCCCCTCAAACTGTAGGTG -3'
(R):5'- ACAGTACCCTCTTTGCATCAAAATC -3'

Sequencing Primer
(F):5'- CCCTCAAACTGTAGGTGGATGAGTC -3'
(R):5'- ACCCTCTTTGCATCAAAATCTTAGC -3'

Posted On

2014-06-23