Mutagenetix > Incidental Mutation

Incidental Mutation 'R7631:D430041D05Rik'

589619

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

045692-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R7631 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103973418-104241358 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 103979363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1336 (Y1336*)

Ref Sequence

ENSEMBL: ENSMUSP00000106756 (fasta)

Gene Model

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

AlphaFold

A0A2R8VKG2

Predicted Effect

probably null
Transcript: ENSMUST00000089726
AA Change: Y1336*

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: Y1336*

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 null
Transcript: ENSMUST00000136156
AA Change: Y1337*

Predicted Effect

probably null
Transcript: ENSMUST00000141159
AA Change: Y1222*

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: Y1222*

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

probably null
Transcript: ENSMUST00000230671
AA Change: Y2021*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

87% (46/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	A	6: 34,834,606 (GRCm39)	L930H	possibly damaging	Het
Albfm1	T	C	5: 90,727,531 (GRCm39)	L383S	probably damaging	Het
Alcam	C	T	16: 52,109,276 (GRCm39)		probably null	Het
Ankrd31	A	G	13: 97,015,462 (GRCm39)	H1577R	probably benign	Het
Arfgef1	T	C	1: 10,302,694 (GRCm39)	N9S	probably benign	Het
Cpne9	T	C	6: 113,279,079 (GRCm39)	V491A	possibly damaging	Het
Cyb5d1	A	T	11: 69,285,865 (GRCm39)	L57Q	possibly damaging	Het
Cyp7a1	T	A	4: 6,272,763 (GRCm39)	Q150L	possibly damaging	Het
Dcaf7	T	C	11: 105,944,579 (GRCm39)	V254A	probably benign	Het
Dchs1	T	C	7: 105,408,445 (GRCm39)	T1796A	probably benign	Het
Defa27	T	A	8: 21,805,657 (GRCm39)	D32E	probably benign	Het
Eno2	T	C	6: 124,744,019 (GRCm39)	E96G	probably benign	Het
Fbxw19	T	A	9: 109,311,069 (GRCm39)	Y380F	probably damaging	Het
Fer1l4	A	T	2: 155,890,195 (GRCm39)	N243K	probably damaging	Het
Fndc7	G	A	3: 108,776,568 (GRCm39)	A491V	probably damaging	Het
Gm14305	A	G	2: 176,410,790 (GRCm39)	Q15R	probably benign	Het
Gpr155	T	C	2: 73,213,291 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,624,513 (GRCm39)	H360R	probably damaging	Het
Ifi203	G	A	1: 173,754,688 (GRCm39)	T681I	unknown	Het
Klc2	A	G	19: 5,158,647 (GRCm39)	S616P	probably benign	Het
Lifr	A	G	15: 7,214,258 (GRCm39)	Y704C	probably damaging	Het
Lingo4	A	C	3: 94,306,767 (GRCm39)	D15A	possibly damaging	Het
Lrrc74a	A	T	12: 86,795,884 (GRCm39)	N286Y	probably damaging	Het
Mcm8	A	G	2: 132,669,963 (GRCm39)	T374A	not run	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naa25	A	G	5: 121,576,791 (GRCm39)	T847A	possibly damaging	Het
Nrxn2	T	A	19: 6,531,825 (GRCm39)	M763K	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or1p4-ps1	A	C	11: 74,208,357 (GRCm39)	T169P	unknown	Het
Or2r3	T	A	6: 42,448,870 (GRCm39)	M81L	probably benign	Het
Or5m11	A	T	2: 85,782,218 (GRCm39)	E270D	probably benign	Het
Or8c13	A	T	9: 38,092,002 (GRCm39)	V39E	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Pabpc4	T	G	4: 123,182,763 (GRCm39)	D133E	probably damaging	Het
Pcsk5	A	T	19: 17,542,144 (GRCm39)	C816S	probably damaging	Het
Pgm2	A	G	5: 64,265,522 (GRCm39)	T408A	possibly damaging	Het
Polr2m	G	C	9: 71,390,757 (GRCm39)	Y148*	probably null	Het
Reln	T	C	5: 22,176,933 (GRCm39)	N1911S	probably damaging	Het
Scaf4	T	C	16: 90,026,445 (GRCm39)	D1124G	unknown	Het
Scgb1b19	C	T	7: 32,986,784 (GRCm39)	T18I	probably damaging	Het
Septin12	T	A	16: 4,814,320 (GRCm39)	I50F	probably damaging	Het
Slc25a20	T	A	9: 108,539,491 (GRCm39)	M22K	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smchd1	A	G	17: 71,705,684 (GRCm39)	F972L	probably benign	Het
Spem1	T	C	11: 69,712,409 (GRCm39)	Y85C	probably benign	Het
Strip1	C	T	3: 107,524,247 (GRCm39)	V557I	possibly damaging	Het
Tcirg1	G	T	19: 3,947,160 (GRCm39)	Q634K	probably damaging	Het
Tma7	T	A	9: 108,911,507 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,299,414 (GRCm39)	L35P	probably damaging	Het
Trpc6	A	G	9: 8,626,702 (GRCm39)	T351A	probably benign	Het
Tubb2a	A	G	13: 34,259,227 (GRCm39)	S188P	probably damaging	Het
Ubr5	C	A	15: 38,029,751 (GRCm39)	L485F		Het
Vmn1r71	A	T	7: 10,482,378 (GRCm39)	S103R	probably damaging	Het
Vmn2r40	C	T	7: 8,911,119 (GRCm39)	D725N		Het
Zfp473	T	C	7: 44,383,128 (GRCm39)	R402G	possibly damaging	Het
Zfp82	A	T	7: 29,755,851 (GRCm39)	S410R	probably damaging	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
R1574:D430041D05Rik	UTSW	2	104,051,553 (GRCm39)	small deletion	probably benign
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
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'- AAACATGTCTGTCTGCTTCTTG -3'
(R):5'- AGCCCATGATTACAGTTCCCC -3'

Sequencing Primer
(F):5'- TCTCGGATAGCCTTCACGAG -3'
(R):5'- ATGATTACAGTTCCCCTCTAAACC -3'

Posted On

2019-10-24