Mutagenetix > Incidental Mutations

Incidental Mutation 'R0402:D430041D05Rik'

35596

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

038607-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R0402 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104143073-104411013 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104168164 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1080 (T1080A)

Ref Sequence

ENSEMBL: ENSMUSP00000106756 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000089726
AA Change: T1080A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: T1080A

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 damaging
Transcript: ENSMUST00000136156
AA Change: T1081A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141159
AA Change: T966A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: T966A

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 damaging
Transcript: ENSMUST00000230671
AA Change: T1765A

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

Meta Mutation Damage Score

0.1032

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,609,253	K165N	probably damaging	Het
Adam6b	T	A	12: 113,489,995	M144K	probably damaging	Het
Arhgap44	T	C	11: 65,032,077		probably benign	Het
Arl5c	T	A	11: 97,995,113	I21F	probably damaging	Het
Bglap2	C	T	3: 88,378,245	G40D	probably damaging	Het
Bptf	T	C	11: 107,074,114	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,141,457	T209A	probably damaging	Het
Ccr8	A	G	9: 120,094,910		probably null	Het
Chkb	C	T	15: 89,429,407	R65Q	probably benign	Het
Col4a1	T	C	8: 11,199,838		probably benign	Het
Cryzl2	A	G	1: 157,464,444	T98A	probably benign	Het
Dhx8	C	A	11: 101,752,397	T765N	probably damaging	Het
Dicer1	T	C	12: 104,731,064	D78G	probably benign	Het
Drd2	A	G	9: 49,404,971	I344V	probably benign	Het
Edil3	A	T	13: 89,199,451		probably benign	Het
Fam71a	T	C	1: 191,164,440	D2G	probably benign	Het
Fam71f1	A	G	6: 29,323,902	T209A	probably benign	Het
Fbxw19	C	T	9: 109,484,425	G235D	probably benign	Het
Fzd1	T	C	5: 4,755,702	K627E	possibly damaging	Het
Gm10638	A	G	8: 86,746,200		probably benign	Het
Gm14124	T	A	2: 150,269,216	C609S	possibly damaging	Het
H6pd	G	T	4: 149,996,316	A24E	probably damaging	Het
Hectd2	G	T	19: 36,601,529		probably null	Het
Hps5	A	G	7: 46,790,909		probably benign	Het
Irx3	T	C	8: 91,800,668	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,849,585	M1V	probably null	Het
Klrb1	A	T	6: 128,710,620	F104I	probably benign	Het
Lrfn5	T	C	12: 61,840,017	M197T	probably benign	Het
Mpdz	A	C	4: 81,361,440	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,569,070	E258*	probably null	Het
Mylk3	T	A	8: 85,352,910	H373L	probably damaging	Het
Myrfl	A	G	10: 116,828,977	S383P	probably damaging	Het
Nt5c	T	C	11: 115,490,642	*195W	probably null	Het
Ocstamp	A	G	2: 165,396,264	V360A	possibly damaging	Het
Olfr1180	A	T	2: 88,412,034	V208D	probably damaging	Het
Olfr122	T	A	17: 37,772,393	C247S	probably damaging	Het
Olfr1277	A	G	2: 111,269,863	F168S	probably damaging	Het
Olfr1330	A	T	4: 118,893,229	I49F	possibly damaging	Het
Olfr1431	A	G	19: 12,209,589	T8A	probably damaging	Het
Otop2	T	C	11: 115,326,408		probably benign	Het
Pom121l2	A	T	13: 21,988,479		probably benign	Het
Pon2	T	A	6: 5,272,410	K137*	probably null	Het
Ppip5k2	T	A	1: 97,719,854	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,434,809	V504M	probably damaging	Het
Rph3a	G	A	5: 120,942,254	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,279,773		probably benign	Het
Slc15a2	G	A	16: 36,775,598	T154I	probably benign	Het
Slc45a3	T	C	1: 131,977,527	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,575,633	S101P	probably damaging	Het
Smco2	T	C	6: 146,871,135		probably benign	Het
Spata2	A	T	2: 167,483,660	V413E	probably benign	Het
Specc1l	A	G	10: 75,246,426	E552G	probably damaging	Het
Sstr5	C	T	17: 25,492,034	V74M	probably benign	Het
Timm50	G	A	7: 28,306,855	R274W	probably damaging	Het
Tll2	A	G	19: 41,098,693	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,606,187	R459M	possibly damaging	Het
Txk	A	G	5: 72,731,762		probably null	Het
Uroc1	A	G	6: 90,347,302	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,210,098	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,182	E737G	probably damaging	Het
Wfs1	A	G	5: 36,976,980		probably benign	Het
Zfp1	G	A	8: 111,670,243	E285K	probably damaging	Het
Zfp661	G	A	2: 127,577,720	Q167*	probably null	Het
Zswim8	T	C	14: 20,710,766	F36S	probably damaging	Het
Zw10	A	G	9: 49,068,723	T385A	probably benign	Het

Other mutations in D430041D05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:D430041D05Rik	APN	2	104201303	missense	probably damaging	1.00
IGL01114:D430041D05Rik	APN	2	104258166	nonsense	probably null
IGL01669:D430041D05Rik	APN	2	104254961	missense	probably damaging	1.00
IGL02015:D430041D05Rik	APN	2	104230404	missense	probably damaging	1.00
IGL02037:D430041D05Rik	APN	2	104208214	splice site	probably benign
IGL02268:D430041D05Rik	APN	2	104241155	missense	possibly damaging	0.80
IGL02294:D430041D05Rik	APN	2	104255006	missense	probably benign	0.42
IGL02457:D430041D05Rik	APN	2	104249345	missense	probably damaging	0.99
IGL02601:D430041D05Rik	APN	2	104230286	missense	probably damaging	0.99
IGL02647:D430041D05Rik	APN	2	104248266	missense	probably damaging	1.00
IGL02679:D430041D05Rik	APN	2	104230305	missense	possibly damaging	0.80
IGL02926:D430041D05Rik	APN	2	104214259	missense	probably damaging	1.00
IGL03171:D430041D05Rik	APN	2	104241163	missense	possibly damaging	0.95
IGL03178:D430041D05Rik	APN	2	104221211	missense	probably damaging	1.00
IGL03371:D430041D05Rik	APN	2	104248374	missense	probably damaging	1.00
R0027:D430041D05Rik	UTSW	2	104255044	missense	probably benign
R0064:D430041D05Rik	UTSW	2	104249157	missense	probably damaging	1.00
R0135:D430041D05Rik	UTSW	2	104255034	missense	possibly damaging	0.60
R0227:D430041D05Rik	UTSW	2	104205200	missense	possibly damaging	0.85
R0265:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0268:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0282:D430041D05Rik	UTSW	2	104201244	missense	probably damaging	1.00
R0366:D430041D05Rik	UTSW	2	104255340	missense	probably damaging	0.99
R0436:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0441:D430041D05Rik	UTSW	2	104167947	missense	probably damaging	1.00
R0540:D430041D05Rik	UTSW	2	104233445	missense	probably damaging	1.00
R0607:D430041D05Rik	UTSW	2	104233445	missense	probably damaging	1.00
R0613:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0626:D430041D05Rik	UTSW	2	104167950	missense	probably damaging	1.00
R0747:D430041D05Rik	UTSW	2	104230306	missense	probably damaging	1.00
R0864:D430041D05Rik	UTSW	2	104230428	missense	possibly damaging	0.78
R0980:D430041D05Rik	UTSW	2	104249345	missense	probably damaging	0.99
R1014:D430041D05Rik	UTSW	2	104258329	missense	possibly damaging	0.94
R1254:D430041D05Rik	UTSW	2	104201303	missense	probably damaging	1.00
R1364:D430041D05Rik	UTSW	2	104155018	missense	possibly damaging	0.93
R1456:D430041D05Rik	UTSW	2	104208083	missense	probably damaging	1.00
R1574:D430041D05Rik	UTSW	2	104221208	small deletion	probably benign
R1604:D430041D05Rik	UTSW	2	104205142	missense	probably damaging	1.00
R1605:D430041D05Rik	UTSW	2	104255570	missense	possibly damaging	0.46
R1623:D430041D05Rik	UTSW	2	104152963	missense	probably damaging	1.00
R1634:D430041D05Rik	UTSW	2	104221211	missense	probably damaging	1.00
R1834:D430041D05Rik	UTSW	2	104168101	missense	probably damaging	1.00
R1885:D430041D05Rik	UTSW	2	104230455	missense	probably benign	0.39
R2080:D430041D05Rik	UTSW	2	104156816	missense	probably damaging	1.00
R2101:D430041D05Rik	UTSW	2	104148830	missense	probably damaging	1.00
R2240:D430041D05Rik	UTSW	2	104156816	missense	probably damaging	1.00
R2923:D430041D05Rik	UTSW	2	104255315	missense	possibly damaging	0.94
R3751:D430041D05Rik	UTSW	2	104255058	missense	possibly damaging	0.94
R3862:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3863:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3864:D430041D05Rik	UTSW	2	104214177	missense	possibly damaging	0.54
R3949:D430041D05Rik	UTSW	2	104257368	missense	probably benign	0.02
R4493:D430041D05Rik	UTSW	2	104256339	missense	probably benign	0.02
R4526:D430041D05Rik	UTSW	2	104192433	critical splice donor site	probably null
R4592:D430041D05Rik	UTSW	2	104233479	missense	possibly damaging	0.89
R4598:D430041D05Rik	UTSW	2	104208183	missense	probably damaging	0.99
R4599:D430041D05Rik	UTSW	2	104208183	missense	probably damaging	0.99
R4647:D430041D05Rik	UTSW	2	104258443	missense	probably damaging	0.99
R4765:D430041D05Rik	UTSW	2	104214096	missense	probably damaging	1.00
R4808:D430041D05Rik	UTSW	2	104201110	critical splice donor site	probably null
R4868:D430041D05Rik	UTSW	2	104255409	missense	possibly damaging	0.73
R4982:D430041D05Rik	UTSW	2	104255387	missense	possibly damaging	0.46
R5144:D430041D05Rik	UTSW	2	104258502	missense	probably damaging	0.99
R5255:D430041D05Rik	UTSW	2	104256600	missense	probably benign	0.26
R5356:D430041D05Rik	UTSW	2	104255409	missense	probably damaging	0.99
R5368:D430041D05Rik	UTSW	2	104248284	missense	probably damaging	0.99
R5963:D430041D05Rik	UTSW	2	104248285	missense	possibly damaging	0.66
R5993:D430041D05Rik	UTSW	2	104168067	missense	probably damaging	1.00
R6122:D430041D05Rik	UTSW	2	104256292	missense	probably benign	0.01
R6410:D430041D05Rik	UTSW	2	104168203	splice site	probably null
R6804:D430041D05Rik	UTSW	2	104149026	missense	possibly damaging	0.85
R6850:D430041D05Rik	UTSW	2	104201259	missense	probably damaging	1.00
R6853:D430041D05Rik	UTSW	2	104241155	missense	probably damaging	1.00
R7034:D430041D05Rik	UTSW	2	104192538	missense	probably damaging	0.99
R7146:D430041D05Rik	UTSW	2	104258353	missense	probably benign	0.06
R7250:D430041D05Rik	UTSW	2	104256616	missense	possibly damaging	0.92
R7251:D430041D05Rik	UTSW	2	104221166	missense	probably damaging	1.00
R7313:D430041D05Rik	UTSW	2	104255565	missense	probably benign
R7359:D430041D05Rik	UTSW	2	104214137	missense	probably damaging	1.00
R7361:D430041D05Rik	UTSW	2	104255018	missense	possibly damaging	0.46
R7436:D430041D05Rik	UTSW	2	104257102	missense	probably benign	0.02
R7472:D430041D05Rik	UTSW	2	104410139	missense	unknown
R7492:D430041D05Rik	UTSW	2	104201305	missense	probably damaging	1.00
R7631:D430041D05Rik	UTSW	2	104149018	nonsense	probably null
R7672:D430041D05Rik	UTSW	2	104241236	missense	probably benign	0.01
R7721:D430041D05Rik	UTSW	2	104258529	missense	probably benign	0.00
R7754:D430041D05Rik	UTSW	2	104257159	missense	probably benign	0.01
X0024:D430041D05Rik	UTSW	2	104192566	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGCACGGCTTGTCCCTAAATTC -3'
(R):5'- TCCTAGACAGAGCACACTGGCTATG -3'

Sequencing Primer
(F):5'- GTCACCACCTCTGAGTACG -3'
(R):5'- agagcacactggctATGACTTAC -3'

Posted On

2013-05-09