Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:0610010F05Rik'

52361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

0610010F05Rik

Ensembl Gene

ENSMUSG00000042208

Gene Name

RIKEN cDNA 0610010F05 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

23564961-23633639 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23595434 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 486 (D486E)

Ref Sequence

ENSEMBL: ENSMUSP00000137799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043356] [ENSMUST00000093267] [ENSMUST00000109532] [ENSMUST00000123909] [ENSMUST00000155903] [ENSMUST00000180260]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043356
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044265
Gene: ENSMUSG00000042208
AA Change: D486E

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093267
AA Change: D340E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090955
Gene: ENSMUSG00000042208
AA Change: D340E

Domain	Start	End	E-Value	Type
Pfam:DUF3342	1	303	7.7e-107	PFAM
low complexity region	419	430	N/A	INTRINSIC
low complexity region	433	450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109532
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105158
Gene: ENSMUSG00000042208
AA Change: D486E

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	5.1e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123909

SMART Domains

Protein: ENSMUSP00000117103
Gene: ENSMUSG00000042208

Domain	Start	End	E-Value	Type
low complexity region	71	82	N/A	INTRINSIC
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155903
AA Change: D486E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137799
Gene: ENSMUSG00000042208
AA Change: D486E

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	1e-106	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180260
AA Change: D486E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136118
Gene: ENSMUSG00000042208
AA Change: D486E

Domain	Start	End	E-Value	Type
low complexity region	8	16	N/A	INTRINSIC
Pfam:DUF3342	147	449	4.5e-107	PFAM
low complexity region	565	576	N/A	INTRINSIC
low complexity region	579	596	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
BC005561	A	G	5: 104,517,662	T17A	probably benign	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Krt1	A	T	15: 101,848,193	D298E	probably damaging	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Med1	A	T	11: 98,157,986	Y661*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Slc1a3	A	G	15: 8,645,687	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,650,993	Y127C	probably damaging	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		probably null	Het

Other mutations in 0610010F05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:0610010F05Rik	APN	11	23620225	splice site	probably benign
IGL01522:0610010F05Rik	APN	11	23582865	critical splice donor site	probably null
IGL01819:0610010F05Rik	APN	11	23584561	missense	probably benign	0.29
IGL02470:0610010F05Rik	APN	11	23615222	missense	probably damaging	0.99
IGL03046:0610010F05Rik	UTSW	11	23615150	missense	possibly damaging	0.77
R0139:0610010F05Rik	UTSW	11	23620214	splice site	probably benign
R0334:0610010F05Rik	UTSW	11	23617129	splice site	probably benign
R0646:0610010F05Rik	UTSW	11	23575491	missense	probably damaging	0.99
R1078:0610010F05Rik	UTSW	11	23611762	missense	probably benign	0.45
R1263:0610010F05Rik	UTSW	11	23620278	nonsense	probably null
R1471:0610010F05Rik	UTSW	11	23615222	missense	probably damaging	0.99
R1568:0610010F05Rik	UTSW	11	23589971	missense	probably damaging	1.00
R2163:0610010F05Rik	UTSW	11	23576826	splice site	probably benign
R2318:0610010F05Rik	UTSW	11	23588701	missense	probably damaging	1.00
R2426:0610010F05Rik	UTSW	11	23576801	missense	probably damaging	1.00
R4373:0610010F05Rik	UTSW	11	23615265	splice site	probably null
R4688:0610010F05Rik	UTSW	11	23593449	missense	probably benign
R4816:0610010F05Rik	UTSW	11	23615243	missense	possibly damaging	0.67
R5046:0610010F05Rik	UTSW	11	23620354	missense	probably benign	0.23
R5156:0610010F05Rik	UTSW	11	23593424	critical splice donor site	probably null
R5249:0610010F05Rik	UTSW	11	23575483	makesense	probably null
R5615:0610010F05Rik	UTSW	11	23606759	missense	probably damaging	0.96
R6758:0610010F05Rik	UTSW	11	23588475	splice site	probably null
R6860:0610010F05Rik	UTSW	11	23625100	missense	probably damaging	1.00
R6910:0610010F05Rik	UTSW	11	23620447	missense	probably damaging	0.99
R7255:0610010F05Rik	UTSW	11	23620465	missense	probably benign	0.41
R7286:0610010F05Rik	UTSW	11	23622479	missense	probably benign	0.07
R7603:0610010F05Rik	UTSW	11	23566191	missense	probably benign
R7618:0610010F05Rik	UTSW	11	23584550	missense	possibly damaging	0.91
R7717:0610010F05Rik	UTSW	11	23606757	missense	probably benign	0.05
R8110:0610010F05Rik	UTSW	11	23576764	missense	probably benign
R8677:0610010F05Rik	UTSW	11	23595471	missense	probably benign	0.24
X0026:0610010F05Rik	UTSW	11	23576767	missense	probably benign	0.00
X0067:0610010F05Rik	UTSW	11	23593420	splice site	probably null
Z1177:0610010F05Rik	UTSW	11	23624960	missense	probably benign	0.38

Posted On

2013-06-21