Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:D430041D05Rik'

171015

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

045014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R1574 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

103973418-104241358 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GTGATGATGATGATGATGATG to GTGATGATGATGATGATG at 104051553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]

AlphaFold

A0A2R8VKG2

Predicted Effect

probably benign
Transcript: ENSMUST00000089726

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	206	215	N/A	INTRINSIC
low complexity region	218	230	N/A	INTRINSIC
low complexity region	234	253	N/A	INTRINSIC
Pfam:DUF3827	498	1134	2.4e-282	PFAM
low complexity region	1196	1217	N/A	INTRINSIC
low complexity region	1331	1351	N/A	INTRINSIC
low complexity region	1360	1372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136156

Predicted Effect

probably benign
Transcript: ENSMUST00000141159

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	91	100	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
Pfam:DUF3827	383	1020	8.2e-280	PFAM
low complexity region	1082	1103	N/A	INTRINSIC
low complexity region	1217	1237	N/A	INTRINSIC
low complexity region	1246	1258	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156278

Predicted Effect

probably benign
Transcript: ENSMUST00000230671

Coding Region Coverage

1x: 98.3%
3x: 96.3%
10x: 84.0%
20x: 52.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	Het

Other mutations in D430041D05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:D430041D05Rik	APN	2	104,031,648 (GRCm39)	missense	probably damaging	1.00
IGL01114:D430041D05Rik	APN	2	104,088,511 (GRCm39)	nonsense	probably null
IGL01669:D430041D05Rik	APN	2	104,085,306 (GRCm39)	missense	probably damaging	1.00
IGL02015:D430041D05Rik	APN	2	104,060,749 (GRCm39)	missense	probably damaging	1.00
IGL02037:D430041D05Rik	APN	2	104,038,559 (GRCm39)	splice site	probably benign
IGL02268:D430041D05Rik	APN	2	104,071,500 (GRCm39)	missense	possibly damaging	0.80
IGL02294:D430041D05Rik	APN	2	104,085,351 (GRCm39)	missense	probably benign	0.42
IGL02457:D430041D05Rik	APN	2	104,079,690 (GRCm39)	missense	probably damaging	0.99
IGL02601:D430041D05Rik	APN	2	104,060,631 (GRCm39)	missense	probably damaging	0.99
IGL02647:D430041D05Rik	APN	2	104,078,611 (GRCm39)	missense	probably damaging	1.00
IGL02679:D430041D05Rik	APN	2	104,060,650 (GRCm39)	missense	possibly damaging	0.80
IGL02926:D430041D05Rik	APN	2	104,044,604 (GRCm39)	missense	probably damaging	1.00
IGL03171:D430041D05Rik	APN	2	104,071,508 (GRCm39)	missense	possibly damaging	0.95
IGL03178:D430041D05Rik	APN	2	104,051,556 (GRCm39)	missense	probably damaging	1.00
IGL03371:D430041D05Rik	APN	2	104,078,719 (GRCm39)	missense	probably damaging	1.00
R0027:D430041D05Rik	UTSW	2	104,085,389 (GRCm39)	missense	probably benign
R0064:D430041D05Rik	UTSW	2	104,079,502 (GRCm39)	missense	probably damaging	1.00
R0135:D430041D05Rik	UTSW	2	104,085,379 (GRCm39)	missense	possibly damaging	0.60
R0227:D430041D05Rik	UTSW	2	104,035,545 (GRCm39)	missense	possibly damaging	0.85
R0265:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0268:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0282:D430041D05Rik	UTSW	2	104,031,589 (GRCm39)	missense	probably damaging	1.00
R0366:D430041D05Rik	UTSW	2	104,085,685 (GRCm39)	missense	probably damaging	0.99
R0402:D430041D05Rik	UTSW	2	103,998,509 (GRCm39)	missense	probably damaging	0.99
R0436:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0441:D430041D05Rik	UTSW	2	103,998,292 (GRCm39)	missense	probably damaging	1.00
R0540:D430041D05Rik	UTSW	2	104,063,790 (GRCm39)	missense	probably damaging	1.00
R0607:D430041D05Rik	UTSW	2	104,063,790 (GRCm39)	missense	probably damaging	1.00
R0613:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0626:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0747:D430041D05Rik	UTSW	2	104,060,651 (GRCm39)	missense	probably damaging	1.00
R0864:D430041D05Rik	UTSW	2	104,060,773 (GRCm39)	missense	possibly damaging	0.78
R0980:D430041D05Rik	UTSW	2	104,079,690 (GRCm39)	missense	probably damaging	0.99
R1014:D430041D05Rik	UTSW	2	104,088,674 (GRCm39)	missense	possibly damaging	0.94
R1254:D430041D05Rik	UTSW	2	104,031,648 (GRCm39)	missense	probably damaging	1.00
R1364:D430041D05Rik	UTSW	2	103,985,363 (GRCm39)	missense	possibly damaging	0.93
R1456:D430041D05Rik	UTSW	2	104,038,428 (GRCm39)	missense	probably damaging	1.00
R1604:D430041D05Rik	UTSW	2	104,035,487 (GRCm39)	missense	probably damaging	1.00
R1605:D430041D05Rik	UTSW	2	104,085,915 (GRCm39)	missense	possibly damaging	0.46
R1623:D430041D05Rik	UTSW	2	103,983,308 (GRCm39)	missense	probably damaging	1.00
R1634:D430041D05Rik	UTSW	2	104,051,556 (GRCm39)	missense	probably damaging	1.00
R1834:D430041D05Rik	UTSW	2	103,998,446 (GRCm39)	missense	probably damaging	1.00
R1885:D430041D05Rik	UTSW	2	104,060,800 (GRCm39)	missense	probably benign	0.39
R2080:D430041D05Rik	UTSW	2	103,987,161 (GRCm39)	missense	probably damaging	1.00
R2101:D430041D05Rik	UTSW	2	103,979,175 (GRCm39)	missense	probably damaging	1.00
R2240:D430041D05Rik	UTSW	2	103,987,161 (GRCm39)	missense	probably damaging	1.00
R2923:D430041D05Rik	UTSW	2	104,085,660 (GRCm39)	missense	possibly damaging	0.94
R3751:D430041D05Rik	UTSW	2	104,085,403 (GRCm39)	missense	possibly damaging	0.94
R3862:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3863:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3864:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3949:D430041D05Rik	UTSW	2	104,087,713 (GRCm39)	missense	probably benign	0.02
R4493:D430041D05Rik	UTSW	2	104,086,684 (GRCm39)	missense	probably benign	0.02
R4526:D430041D05Rik	UTSW	2	104,022,778 (GRCm39)	critical splice donor site	probably null
R4592:D430041D05Rik	UTSW	2	104,063,824 (GRCm39)	missense	possibly damaging	0.89
R4598:D430041D05Rik	UTSW	2	104,038,528 (GRCm39)	missense	probably damaging	0.99
R4599:D430041D05Rik	UTSW	2	104,038,528 (GRCm39)	missense	probably damaging	0.99
R4647:D430041D05Rik	UTSW	2	104,088,788 (GRCm39)	missense	probably damaging	0.99
R4765:D430041D05Rik	UTSW	2	104,044,441 (GRCm39)	missense	probably damaging	1.00
R4808:D430041D05Rik	UTSW	2	104,031,455 (GRCm39)	critical splice donor site	probably null
R4868:D430041D05Rik	UTSW	2	104,085,754 (GRCm39)	missense	possibly damaging	0.73
R4982:D430041D05Rik	UTSW	2	104,085,732 (GRCm39)	missense	possibly damaging	0.46
R5144:D430041D05Rik	UTSW	2	104,088,847 (GRCm39)	missense	probably damaging	0.99
R5255:D430041D05Rik	UTSW	2	104,086,945 (GRCm39)	missense	probably benign	0.26
R5356:D430041D05Rik	UTSW	2	104,085,754 (GRCm39)	missense	probably damaging	0.99
R5368:D430041D05Rik	UTSW	2	104,078,629 (GRCm39)	missense	probably damaging	0.99
R5963:D430041D05Rik	UTSW	2	104,078,630 (GRCm39)	missense	possibly damaging	0.66
R5993:D430041D05Rik	UTSW	2	103,998,412 (GRCm39)	missense	probably damaging	1.00
R6122:D430041D05Rik	UTSW	2	104,086,637 (GRCm39)	missense	probably benign	0.01
R6410:D430041D05Rik	UTSW	2	103,998,548 (GRCm39)	splice site	probably null
R6804:D430041D05Rik	UTSW	2	103,979,371 (GRCm39)	missense	possibly damaging	0.85
R6850:D430041D05Rik	UTSW	2	104,031,604 (GRCm39)	missense	probably damaging	1.00
R6853:D430041D05Rik	UTSW	2	104,071,500 (GRCm39)	missense	probably damaging	1.00
R7034:D430041D05Rik	UTSW	2	104,022,883 (GRCm39)	missense	probably damaging	0.99
R7146:D430041D05Rik	UTSW	2	104,088,698 (GRCm39)	missense	probably benign	0.06
R7250:D430041D05Rik	UTSW	2	104,086,961 (GRCm39)	missense	possibly damaging	0.92
R7251:D430041D05Rik	UTSW	2	104,051,511 (GRCm39)	missense	probably damaging	1.00
R7313:D430041D05Rik	UTSW	2	104,085,910 (GRCm39)	missense	probably benign
R7359:D430041D05Rik	UTSW	2	104,044,482 (GRCm39)	missense	probably damaging	1.00
R7361:D430041D05Rik	UTSW	2	104,085,363 (GRCm39)	missense	possibly damaging	0.46
R7436:D430041D05Rik	UTSW	2	104,087,447 (GRCm39)	missense	probably benign	0.02
R7472:D430041D05Rik	UTSW	2	104,240,484 (GRCm39)	missense	unknown
R7492:D430041D05Rik	UTSW	2	104,031,650 (GRCm39)	missense	probably damaging	1.00
R7631:D430041D05Rik	UTSW	2	103,979,363 (GRCm39)	nonsense	probably null
R7672:D430041D05Rik	UTSW	2	104,071,581 (GRCm39)	missense	probably benign	0.01
R7721:D430041D05Rik	UTSW	2	104,088,874 (GRCm39)	missense	probably benign	0.00
R7754:D430041D05Rik	UTSW	2	104,087,504 (GRCm39)	missense	probably benign	0.01
R7882:D430041D05Rik	UTSW	2	104,087,974 (GRCm39)	nonsense	probably null
R7896:D430041D05Rik	UTSW	2	104,088,385 (GRCm39)	missense	probably benign	0.05
R7986:D430041D05Rik	UTSW	2	104,087,096 (GRCm39)	missense	probably damaging	1.00
R8005:D430041D05Rik	UTSW	2	104,088,599 (GRCm39)	missense	possibly damaging	0.72
R8016:D430041D05Rik	UTSW	2	104,022,864 (GRCm39)	missense	probably damaging	1.00
R8054:D430041D05Rik	UTSW	2	103,985,390 (GRCm39)	missense	possibly damaging	0.93
R8058:D430041D05Rik	UTSW	2	103,979,128 (GRCm39)	makesense	probably null
R8100:D430041D05Rik	UTSW	2	104,087,287 (GRCm39)	missense	probably benign	0.00
R8461:D430041D05Rik	UTSW	2	103,998,280 (GRCm39)	missense	possibly damaging	0.46
R8695:D430041D05Rik	UTSW	2	104,085,299 (GRCm39)	critical splice donor site	probably null
R8885:D430041D05Rik	UTSW	2	104,071,538 (GRCm39)	missense	probably damaging	1.00
R9007:D430041D05Rik	UTSW	2	104,087,930 (GRCm39)	missense	probably benign	0.08
R9009:D430041D05Rik	UTSW	2	104,240,521 (GRCm39)	start gained	probably benign
R9335:D430041D05Rik	UTSW	2	104,078,674 (GRCm39)	missense	probably damaging	1.00
R9348:D430041D05Rik	UTSW	2	104,088,337 (GRCm39)	missense	probably benign	0.05
R9384:D430041D05Rik	UTSW	2	104,087,920 (GRCm39)	missense	probably benign
R9483:D430041D05Rik	UTSW	2	104,087,563 (GRCm39)	missense	probably benign	0.44
R9489:D430041D05Rik	UTSW	2	104,087,189 (GRCm39)	missense	probably benign	0.20
R9605:D430041D05Rik	UTSW	2	104,087,189 (GRCm39)	missense	probably benign	0.20
R9613:D430041D05Rik	UTSW	2	104,060,737 (GRCm39)	missense	probably benign	0.09
R9698:D430041D05Rik	UTSW	2	103,985,396 (GRCm39)	missense	probably damaging	1.00
X0024:D430041D05Rik	UTSW	2	104,022,911 (GRCm39)	critical splice acceptor site	probably null
Z1176:D430041D05Rik	UTSW	2	104,087,201 (GRCm39)	missense	probably benign	0.00
Z1176:D430041D05Rik	UTSW	2	103,985,280 (GRCm39)	missense	probably damaging	1.00
Z1177:D430041D05Rik	UTSW	2	104,071,536 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CGAGGCTGTGATGATGTTCCTGAAG -3'
(R):5'- AGCAGCTCGTGTCAACTGATCC -3'

Sequencing Primer
(F):5'- AACCTTTGAAGCCTGGGAGA -3'
(R):5'- acctcttgtgtccttgcc -3'

Posted On

2014-04-13