Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03006:1700012B07Rik'

407545

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700012B07Rik

Ensembl Gene

ENSMUSG00000020617

Gene Name

RIKEN cDNA 1700012B07 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

109787651-109828046 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109827845 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 21 (S21C)

Ref Sequence

ENSEMBL: ENSMUSP00000102285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020941] [ENSMUST00000106674]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020941
AA Change: S21C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: S21C

Domain	Start	End	E-Value	Type
low complexity region	41	46	N/A	INTRINSIC
low complexity region	61	71	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106674
AA Change: S21C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: S21C

Domain	Start	End	E-Value	Type
low complexity region	41	46	N/A	INTRINSIC
low complexity region	61	71	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037H04Rik	A	C	2: 131,151,714	D22E	probably damaging	Het
2210408I21Rik	T	C	13: 77,323,772		probably null	Het
Abcc3	T	C	11: 94,368,595	D340G	probably benign	Het
Adamts17	G	T	7: 67,078,347	R879L	possibly damaging	Het
Cacna1f	C	A	X: 7,626,903	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,480,765		probably benign	Het
Dll1	C	T	17: 15,373,592	R171Q	probably benign	Het
Dnm1	T	A	2: 32,353,121	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,698,697	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,204,319	A470V	probably benign	Het
Gm6401	C	T	14: 41,966,894	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,896,525	S82R	probably damaging	Het
Klk1b4	A	G	7: 44,211,595	I221V	probably benign	Het
Lama3	T	C	18: 12,468,368		probably benign	Het
Lrch1	A	G	14: 74,813,620	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 24,901,515	T882A	probably benign	Het
Med12	C	T	X: 101,278,078	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721	G34R	possibly damaging	Het
Nf1	G	A	11: 79,545,431	D1966N	probably damaging	Het
Nlrp9c	G	A	7: 26,372,082	T867I	probably damaging	Het
Nrap	C	T	19: 56,347,164	V941I	probably benign	Het
Olfr172	T	A	16: 58,761,148	K9N	probably benign	Het
Pcdh10	A	G	3: 45,379,502	I84V	probably damaging	Het
Polr3d	T	A	14: 70,441,163		probably null	Het
Prkar2a	G	T	9: 108,740,441	V233L	probably benign	Het
Prl4a1	T	C	13: 28,023,376	V211A	probably damaging	Het
Qpct	T	C	17: 79,070,722	V107A	probably benign	Het
Rai1	T	C	11: 60,188,205	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,296,954	T1113K	probably damaging	Het
Rxra	C	T	2: 27,759,645	T454I	probably damaging	Het
S100z	T	C	13: 95,478,619	I13V	probably damaging	Het
Scp2	T	C	4: 108,091,280	K167E	probably benign	Het
Sephs2	A	G	7: 127,273,034	F296L	probably benign	Het
Setd1b	A	G	5: 123,148,451	E520G	unknown	Het
Slc28a2	G	A	2: 122,452,538	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,083,889	I451K	probably benign	Het
Tarbp1	C	T	8: 126,444,142	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,625,432	D1575G	probably damaging	Het
Tll1	T	A	8: 64,074,217		probably benign	Het
Tsks	A	T	7: 44,950,774		probably benign	Het
Ttc1	A	T	11: 43,745,320	M32K	probably benign	Het
Txlnb	C	T	10: 17,838,975	A385V	probably damaging	Het
Zc4h2	T	C	X: 95,643,413	H98R	probably damaging	Het

Other mutations in 1700012B07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:1700012B07Rik	APN	11	109794111	missense	probably damaging	0.99
R0626:1700012B07Rik	UTSW	11	109788721	unclassified	probably benign
R1566:1700012B07Rik	UTSW	11	109788806	missense	probably benign	0.01
R1654:1700012B07Rik	UTSW	11	109797399	missense	probably benign	0.36
R2373:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R2405:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R2410:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R2411:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3707:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3708:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3732:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3745:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3783:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3784:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3785:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3805:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3806:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3922:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R3926:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4085:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4089:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4110:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4111:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4112:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4171:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R4506:1700012B07Rik	UTSW	11	109794261	missense	probably damaging	1.00
R4825:1700012B07Rik	UTSW	11	109791672	missense	probably benign	0.00
R5032:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R5033:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R5971:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R6078:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R6079:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R6138:1700012B07Rik	UTSW	11	109794154	nonsense	probably null
R6354:1700012B07Rik	UTSW	11	109794216	missense	probably benign	0.33

Posted On

2016-08-02