Mutagenetix > Incidental Mutation

Incidental Mutation 'R9098:A830018L16Rik'

691442

Institutional Source

Beutler Lab

Gene Symbol

A830018L16Rik

Ensembl Gene

ENSMUSG00000057715

Gene Name

RIKEN cDNA A830018L16 gene

Synonyms

MMRRC Submission

068913-MU

Accession Numbers

Essential gene?

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

Stock #

R9098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11484329-12046125 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11633211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 168 (D168V)

Ref Sequence

ENSEMBL: ENSMUSP00000117421 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048613
AA Change: D168V

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

SMART Domains

Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: D168V

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: ENSMUST00000135014
AA Change: D168V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119143
Gene: ENSMUSG00000057715
AA Change: D168V

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: D168V

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

SMART Domains

Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: D168V

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

SMART Domains

Protein: ENSMUSP00000121311
Gene: ENSMUSG00000057715
AA Change: D64V

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 damaging
Transcript: ENSMUST00000141512
AA Change: D168V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139635
Gene: ENSMUSG00000057715
AA Change: D168V

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: ENSMUST00000171690
AA Change: D168V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132334
Gene: ENSMUSG00000057715
AA Change: D168V

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: ENSMUST00000179089
AA Change: D168V

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

Meta Mutation Damage Score

0.2718

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 9,008,441 (GRCm39)	D1203V	probably damaging	Het
Acat2	G	A	17: 13,178,979 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,179,484 (GRCm39)	C611Y	probably damaging	Het
Adgrb1	A	G	15: 74,415,189 (GRCm39)	D638G	probably damaging	Het
Adra1b	T	C	11: 43,667,218 (GRCm39)	N340D	probably damaging	Het
Ankrd31	A	G	13: 96,916,879 (GRCm39)	H131R	probably damaging	Het
Aoc2	T	C	11: 101,217,164 (GRCm39)	S416P	possibly damaging	Het
Armc8	G	A	9: 99,387,362 (GRCm39)	R419*	probably null	Het
Atp6v1h	T	G	1: 5,163,638 (GRCm39)	V90G	probably damaging	Het
Avl9	T	C	6: 56,707,628 (GRCm39)	V191A	probably benign	Het
Bsn	G	A	9: 107,990,173 (GRCm39)	P1860S	possibly damaging	Het
Btd	A	G	14: 31,384,233 (GRCm39)	K73R	probably benign	Het
Cd22	T	C	7: 30,567,391 (GRCm39)	K731R	probably benign	Het
Chmp7	C	A	14: 69,956,911 (GRCm39)	L332F	probably damaging	Het
Cirop	T	G	14: 54,932,686 (GRCm39)	S393R	probably damaging	Het
Cldn11	A	G	3: 31,217,276 (GRCm39)	E148G	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cnbd1	A	T	4: 18,886,061 (GRCm39)	Y319*	probably null	Het
Cnnm4	A	G	1: 36,511,170 (GRCm39)	T133A	probably benign	Het
Cpeb4	A	T	11: 31,822,679 (GRCm39)	E131V	probably benign	Het
Ctns	A	G	11: 73,078,561 (GRCm39)		probably null	Het
Dhx36	C	A	3: 62,414,142 (GRCm39)	Q73H	probably benign	Het
Dhx36	C	A	3: 62,414,141 (GRCm39)	E74*	probably null	Het
Dnah5	A	G	15: 28,420,107 (GRCm39)	T3802A		Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Flnc	C	T	6: 29,455,518 (GRCm39)	Q2056*	probably null	Het
Fmo9	T	C	1: 166,492,199 (GRCm39)	D408G	possibly damaging	Het
Gipr	C	T	7: 18,897,495 (GRCm39)	S117N	unknown	Het
Gm14412	T	A	2: 177,006,356 (GRCm39)	H513L	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gucy1a2	A	T	9: 3,634,489 (GRCm39)	I178L	probably benign	Het
Htr1b	A	T	9: 81,514,481 (GRCm39)	L42Q		Het
Htr2b	T	C	1: 86,027,481 (GRCm39)	T342A	probably damaging	Het
Jkampl	T	C	6: 73,446,517 (GRCm39)	T11A	probably benign	Het
Jph2	C	T	2: 163,181,473 (GRCm39)	V564M	probably damaging	Het
Kcnmb1	A	G	11: 33,914,806 (GRCm39)	T36A	probably damaging	Het
Krit1	A	C	5: 3,863,135 (GRCm39)	K310N	probably benign	Het
Lama1	C	T	17: 68,111,508 (GRCm39)	T2253M		Het
Lpar6	C	T	14: 73,476,233 (GRCm39)	L65F	probably damaging	Het
Megf6	G	A	4: 154,354,160 (GRCm39)	G1355R	probably damaging	Het
Mmp3	T	A	9: 7,446,936 (GRCm39)	Y39N	probably damaging	Het
Mrtfb	A	G	16: 13,221,053 (GRCm39)	H743R	probably benign	Het
Ms4a18	C	A	19: 10,990,741 (GRCm39)	V118F		Het
Mthfr	G	A	4: 148,126,082 (GRCm39)	S51N	probably benign	Het
Muc16	T	A	9: 18,554,975 (GRCm39)	T3773S	unknown	Het
Mus81	T	A	19: 5,534,032 (GRCm39)	K400*	probably null	Het
Naaladl2	A	T	3: 24,487,344 (GRCm39)	D192E	probably benign	Het
Naip5	T	C	13: 100,366,127 (GRCm39)	D329G	possibly damaging	Het
Nek11	T	A	9: 105,170,856 (GRCm39)	H393L	probably benign	Het
Nmt2	T	A	2: 3,306,315 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,920,408 (GRCm39)	D279G	possibly damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,379 (GRCm39)	D119G	probably damaging	Het
Or1o2	T	C	17: 37,542,961 (GRCm39)	Y100C	probably benign	Het
Or5ak22	T	C	2: 85,229,995 (GRCm39)	N294S	probably damaging	Het
Palm	A	G	10: 79,654,988 (GRCm39)	T249A	probably benign	Het
Pramel22	A	T	4: 143,381,097 (GRCm39)	Y309N	probably benign	Het
Rhobtb3	A	G	13: 76,087,702 (GRCm39)	I95T	probably damaging	Het
Rnpep	A	T	1: 135,206,559 (GRCm39)	F178L	possibly damaging	Het
Rsl1d1	A	G	16: 11,019,227 (GRCm39)	S105P	probably damaging	Het
Rxra	C	T	2: 27,638,756 (GRCm39)	T253I	possibly damaging	Het
Schip1	A	G	3: 67,972,318 (GRCm39)	D15G		Het
Sis	T	A	3: 72,844,578 (GRCm39)	I719F	possibly damaging	Het
Snx18	A	G	13: 113,754,310 (GRCm39)	S208P	probably benign	Het
Srcap	T	C	7: 127,151,816 (GRCm39)	V2125A	probably damaging	Het
Stx7	C	T	10: 24,058,724 (GRCm39)	Q199*	probably null	Het
Syt6	T	C	3: 103,492,895 (GRCm39)	I134T	probably damaging	Het
Tlr12	A	G	4: 128,510,870 (GRCm39)	M460T	probably benign	Het
Tnni3k	T	C	3: 154,647,314 (GRCm39)	T398A	possibly damaging	Het
Tspan4	T	C	7: 141,071,816 (GRCm39)	S188P	probably benign	Het
Ubap2l	A	G	3: 89,909,756 (GRCm39)	S1025P	unknown	Het
Ubl7	A	G	9: 57,829,035 (GRCm39)	D219G	probably benign	Het
Vmn2r115	C	A	17: 23,564,803 (GRCm39)	T230K	probably benign	Het
Vmn2r95	T	A	17: 18,660,167 (GRCm39)	M193K	possibly damaging	Het
Zfp639	A	G	3: 32,573,885 (GRCm39)	E170G	probably damaging	Het
Zfy1	A	G	Y: 725,987 (GRCm39)	S593P	possibly damaging	Het
Zscan4-ps1	T	A	7: 10,799,495 (GRCm39)	T465S	probably 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
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
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'- ACAGACACCACTGAGTTTATTTCC -3'
(R):5'- GTGCTTCAGACTAAACCAAGC -3'

Sequencing Primer
(F):5'- GCTTTCATAAGTAGAATGGACATACC -3'
(R):5'- CATTGCCATCATCAGAATAGTCATC -3'

Posted On

2021-12-30