Mutagenetix > Incidental Mutation

Incidental Mutation 'R5255:D430041D05Rik'

399449

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

042826-MU

Accession Numbers

Essential gene?

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

Stock #

R5255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103973418-104241358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104086945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 677 (N677S)

Ref Sequence

ENSEMBL: ENSMUSP00000155485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000149466] [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: ENSMUST00000139015

SMART Domains

Protein: ENSMUSP00000124519
Gene: ENSMUSG00000068373

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000149466

SMART Domains

Protein: ENSMUSP00000124980
Gene: ENSMUSG00000068373

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151310

Predicted Effect

probably benign
Transcript: ENSMUST00000230671
AA Change: N677S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,629 (GRCm39)		probably null	Het
Abr	T	A	11: 76,346,509 (GRCm39)	E434V	probably damaging	Het
Acaca	T	A	11: 84,202,133 (GRCm39)	L197Q	probably damaging	Het
Acot10	A	G	15: 20,666,018 (GRCm39)	I241T	probably benign	Het
Acp6	T	C	3: 97,075,312 (GRCm39)	V182A	probably benign	Het
Ahnak2	G	A	12: 112,739,812 (GRCm39)	T1420I	possibly damaging	Het
Akr1c6	A	T	13: 4,497,018 (GRCm39)	K153N	probably benign	Het
Ank3	T	C	10: 69,721,030 (GRCm39)	L600P	probably damaging	Het
Arhgef1	G	A	7: 24,624,447 (GRCm39)	A824T	probably damaging	Het
B230307C23Rik	T	A	16: 97,809,891 (GRCm39)	N22K	possibly damaging	Het
Btn1a1	A	G	13: 23,648,324 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,404,824 (GRCm39)	T352I	possibly damaging	Het
Ces4a	C	A	8: 105,869,121 (GRCm39)	F185L	probably benign	Het
Clybl	A	C	14: 122,621,691 (GRCm39)	E293A	probably benign	Het
Cobl	A	G	11: 12,325,825 (GRCm39)	W217R	probably damaging	Het
Ddx51	C	A	5: 110,803,908 (GRCm39)	T390N	possibly damaging	Het
Drd5	T	G	5: 38,477,310 (GRCm39)	V101G	probably damaging	Het
Elmo3	C	T	8: 106,033,985 (GRCm39)	P244L	probably benign	Het
Esrrg	G	A	1: 187,878,555 (GRCm39)	R189H	probably damaging	Het
Fxr2	A	G	11: 69,534,667 (GRCm39)	T183A	probably benign	Het
Gjd4	T	C	18: 9,280,613 (GRCm39)	H155R	probably benign	Het
Hivep2	T	A	10: 14,007,011 (GRCm39)		probably null	Het
Ints10	T	C	8: 69,246,624 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,667,209 (GRCm39)	T413A	probably benign	Het
Mapkbp1	T	C	2: 119,847,735 (GRCm39)	V568A	probably damaging	Het
Mobp	A	G	9: 119,997,419 (GRCm39)		probably benign	Het
Mpst	A	G	15: 78,294,708 (GRCm39)	S147G	probably benign	Het
Myo5b	A	T	18: 74,795,741 (GRCm39)	Y559F	possibly damaging	Het
Nceh1	T	C	3: 27,237,288 (GRCm39)	I21T	probably damaging	Het
Or4f7	T	C	2: 111,644,523 (GRCm39)	K183E	probably benign	Het
Phf8-ps	A	T	17: 33,285,739 (GRCm39)	C354*	probably null	Het
Ralgps1	A	T	2: 33,166,171 (GRCm39)	V126E	probably damaging	Het
Rnls	A	G	19: 33,359,823 (GRCm39)	V115A	probably damaging	Het
Scn1a	A	T	2: 66,108,013 (GRCm39)	V1554D	probably damaging	Het
Slc16a11	T	A	11: 70,106,258 (GRCm39)	D165E	probably damaging	Het
Slc16a5	A	G	11: 115,353,501 (GRCm39)	T23A	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc3a1	A	T	17: 85,335,881 (GRCm39)		probably null	Het
Slitrk6	A	T	14: 110,987,185 (GRCm39)	*841K	probably null	Het
Syngr1	A	G	15: 79,975,647 (GRCm39)	Y18C	possibly damaging	Het
Tarbp1	T	G	8: 127,155,709 (GRCm39)	D1343A	probably benign	Het
Vac14	T	A	8: 111,360,961 (GRCm39)	I177N	probably damaging	Het
Vmn1r218	A	T	13: 23,320,881 (GRCm39)	D76V	possibly damaging	Het
Wdr75	T	A	1: 45,838,277 (GRCm39)	I62N	probably damaging	Het
Zfp12	A	T	5: 143,226,134 (GRCm39)	I68L	probably null	Het
Zswim8	T	A	14: 20,771,719 (GRCm39)	Y1551N	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
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'- TTCGACTACGGCCTCTTCTGAG -3'
(R):5'- CTTCGGCTTCCAAACAGGTG -3'

Sequencing Primer
(F):5'- AGAGGCTGGCTGGTCCTG -3'
(R):5'- GGTGACAGAACTTCCCTCC -3'

Posted On

2016-07-06