Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:1700093K21Rik'

75134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700093K21Rik

Ensembl Gene

ENSMUSG00000020286

Gene Name

RIKEN cDNA 1700093K21 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

23516203-23521155 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23517213 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 140 (E140G)

Ref Sequence

ENSEMBL: ENSMUSP00000131204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020527] [ENSMUST00000140122] [ENSMUST00000156629] [ENSMUST00000169264]

Predicted Effect

probably null
Transcript: ENSMUST00000020527
AA Change: E140G

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

SMART Domains

Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: E140G

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:DUF4642	50	196	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140122

Predicted Effect

probably benign
Transcript: ENSMUST00000156629

Predicted Effect

probably null
Transcript: ENSMUST00000169264
AA Change: E140G

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

SMART Domains

Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: E140G

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:DUF4642	50	196	1.3e-67	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit congenital heart defects associated with heterotaxy, as well as thoracic and abdominal visceral organ situs anomalies, and misaligned sternal vertebrae. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in 1700093K21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02897:1700093K21Rik	APN	11	23517308	missense	probably benign	0.00
R1155:1700093K21Rik	UTSW	11	23517270	missense	possibly damaging	0.95
R1677:1700093K21Rik	UTSW	11	23517357	missense	probably benign	0.16
R3983:1700093K21Rik	UTSW	11	23517220	missense	possibly damaging	0.87
R5485:1700093K21Rik	UTSW	11	23517378	missense	probably benign	0.05
R5589:1700093K21Rik	UTSW	11	23518066	missense	probably benign	0.25
R5678:1700093K21Rik	UTSW	11	23516529	missense	probably damaging	1.00
R5783:1700093K21Rik	UTSW	11	23518787	missense	probably damaging	0.99
R5996:1700093K21Rik	UTSW	11	23518928	start codon destroyed	probably null	0.53
R6072:1700093K21Rik	UTSW	11	23517357	missense	probably benign	0.16
R6520:1700093K21Rik	UTSW	11	23517285	missense	possibly damaging	0.63
R6930:1700093K21Rik	UTSW	11	23516563	missense	probably benign	0.03
R7432:1700093K21Rik	UTSW	11	23518839	missense	probably benign	0.07
R7558:1700093K21Rik	UTSW	11	23516285	splice site	probably null
R8077:1700093K21Rik	UTSW	11	23517237	missense	probably benign
Z1177:1700093K21Rik	UTSW	11	23518144	critical splice acceptor site	probably null

Posted On

2013-10-07