Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:D430041D05Rik'

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103407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

104143073-104411013 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104254961 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1081 (K1081R)

Ref Sequence

ENSEMBL: ENSMUSP00000155485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000149466] [ENSMUST00000230671]

Predicted Effect

probably damaging
Transcript: ENSMUST00000089726
AA Change: K397R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: K397R

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: K397R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

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
AA Change: K282R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: K282R

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 damaging
Transcript: ENSMUST00000230671
AA Change: K1081R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	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
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
R0402:D430041D05Rik	UTSW	2	104168164	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
R7882:D430041D05Rik	UTSW	2	104257629	nonsense	probably null
R7896:D430041D05Rik	UTSW	2	104258040	missense	probably benign	0.05
R7986:D430041D05Rik	UTSW	2	104256751	missense	probably damaging	1.00
R8005:D430041D05Rik	UTSW	2	104258254	missense	possibly damaging	0.72
R8016:D430041D05Rik	UTSW	2	104192519	missense	probably damaging	1.00
R8054:D430041D05Rik	UTSW	2	104155045	missense	possibly damaging	0.93
R8058:D430041D05Rik	UTSW	2	104148783	makesense	probably null
R8100:D430041D05Rik	UTSW	2	104256942	missense	probably benign	0.00
R8461:D430041D05Rik	UTSW	2	104167935	missense	possibly damaging	0.46
X0024:D430041D05Rik	UTSW	2	104192566	critical splice acceptor site	probably null
Z1176:D430041D05Rik	UTSW	2	104154935	missense	probably damaging	1.00
Z1176:D430041D05Rik	UTSW	2	104256856	missense	probably benign	0.00
Z1177:D430041D05Rik	UTSW	2	104241191	missense	possibly damaging	0.82

Posted On

2014-01-21