Mutagenetix > Incidental Mutation

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

b2b3025Clo

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

23466203-23471155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23467213 bp (GRCm39)

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]

AlphaFold

no structure available at present

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
Adgrl3	A	G	5: 81,874,570 (GRCm39)	T956A	probably damaging	Het
Aff4	G	A	11: 53,293,327 (GRCm39)	S772N	probably benign	Het
Ark2n	A	G	18: 77,761,613 (GRCm39)	I233T	possibly damaging	Het
Atad5	A	G	11: 79,986,390 (GRCm39)	I492M	probably benign	Het
Atf4	T	C	15: 80,140,728 (GRCm39)		probably benign	Het
Atrip	A	G	9: 108,898,363 (GRCm39)	S219P	probably damaging	Het
Axl	G	A	7: 25,462,734 (GRCm39)	R656W	probably damaging	Het
B3gnt3	T	A	8: 72,145,648 (GRCm39)	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,764,031 (GRCm39)	V915A	possibly damaging	Het
Cacna1s	T	C	1: 136,002,890 (GRCm39)	V329A	possibly damaging	Het
Celf3	C	A	3: 94,395,535 (GRCm39)	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,328,591 (GRCm39)	S292P	probably damaging	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Clec18a	G	A	8: 111,798,245 (GRCm39)	A423V	probably damaging	Het
Clnk	T	C	5: 38,870,550 (GRCm39)	D336G	probably damaging	Het
Csmd1	T	G	8: 15,960,596 (GRCm39)	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,805,817 (GRCm39)	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,160,679 (GRCm39)	I87T	probably damaging	Het
Ell3	A	G	2: 121,272,277 (GRCm39)	S66P	probably damaging	Het
Ercc4	T	C	16: 12,950,798 (GRCm39)	F631L	probably damaging	Het
Etl4	T	A	2: 20,811,784 (GRCm39)	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,543,606 (GRCm39)		probably benign	Het
Gm4553	C	T	7: 141,718,909 (GRCm39)	C173Y	unknown	Het
Gvin-ps5	T	A	7: 105,929,042 (GRCm39)	H285L	unknown	Het
Gykl1	A	T	18: 52,827,808 (GRCm39)	I339F	possibly damaging	Het
H60b	A	C	10: 22,162,078 (GRCm39)	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,427,986 (GRCm39)	T407I	probably damaging	Het
Itga11	A	G	9: 62,651,861 (GRCm39)	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,783 (GRCm39)	C430S	probably damaging	Het
Mfsd4a	T	C	1: 131,995,564 (GRCm39)	S1G	probably null	Het
Mybpc2	C	A	7: 44,165,352 (GRCm39)	M372I	probably benign	Het
Myh10	A	T	11: 68,702,629 (GRCm39)	T1768S	probably benign	Het
Myh8	A	G	11: 67,188,606 (GRCm39)	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,794,862 (GRCm39)	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,458,214 (GRCm39)	N2119T	probably damaging	Het
Nek11	C	T	9: 105,270,112 (GRCm39)	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,177,974 (GRCm39)	N479D	probably damaging	Het
Nup160	A	G	2: 90,530,772 (GRCm39)	T477A	probably benign	Het
Or10al5	A	T	17: 38,063,177 (GRCm39)	H144L	probably benign	Het
Or5h18	T	A	16: 58,848,157 (GRCm39)	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,581,066 (GRCm39)	V259A	probably benign	Het
Pmm1	A	G	15: 81,836,219 (GRCm39)	V131A	probably damaging	Het
Polr3a	A	T	14: 24,511,831 (GRCm39)	D908E	probably damaging	Het
Psg29	A	C	7: 16,944,598 (GRCm39)	R369S	probably benign	Het
Ptprq	T	A	10: 107,547,765 (GRCm39)	D211V	probably damaging	Het
Rdh9	A	G	10: 127,612,661 (GRCm39)	N103S	probably benign	Het
Riok3	T	C	18: 12,286,020 (GRCm39)		probably benign	Het
Serpinb1b	A	T	13: 33,275,398 (GRCm39)	Q174H	probably benign	Het
Sgip1	G	T	4: 102,772,353 (GRCm39)		probably null	Het
Sgpp1	A	T	12: 75,781,767 (GRCm39)	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,036,051 (GRCm39)	N641S	probably damaging	Het
Slc5a4b	T	C	10: 75,906,422 (GRCm39)	N399S	probably damaging	Het
Snx16	C	T	3: 10,484,219 (GRCm39)	A335T	probably damaging	Het
Sos2	C	T	12: 69,664,866 (GRCm39)	R355H	probably damaging	Het
Szt2	A	G	4: 118,250,821 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,387,902 (GRCm39)	D344E	probably benign	Het
Tek	C	A	4: 94,747,895 (GRCm39)	Q988K	probably damaging	Het
Tgm6	A	G	2: 129,979,299 (GRCm39)	D143G	probably damaging	Het
Tpx2	A	G	2: 152,735,511 (GRCm39)	K713R	probably damaging	Het
Trappc9	T	A	15: 72,808,858 (GRCm39)	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,855,015 (GRCm39)	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,129,078 (GRCm39)		probably null	Het
Usp37	T	C	1: 74,500,861 (GRCm39)	S567G	probably damaging	Het
Zfp773	A	T	7: 7,138,314 (GRCm39)	V107D	possibly damaging	Het

Other mutations in 1700093K21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02897:1700093K21Rik	APN	11	23,467,308 (GRCm39)	missense	probably benign	0.00
R1155:1700093K21Rik	UTSW	11	23,467,270 (GRCm39)	missense	possibly damaging	0.95
R1677:1700093K21Rik	UTSW	11	23,467,357 (GRCm39)	missense	probably benign	0.16
R3983:1700093K21Rik	UTSW	11	23,467,220 (GRCm39)	missense	possibly damaging	0.87
R5485:1700093K21Rik	UTSW	11	23,467,378 (GRCm39)	missense	probably benign	0.05
R5589:1700093K21Rik	UTSW	11	23,468,066 (GRCm39)	missense	probably benign	0.25
R5678:1700093K21Rik	UTSW	11	23,466,529 (GRCm39)	missense	probably damaging	1.00
R5783:1700093K21Rik	UTSW	11	23,468,787 (GRCm39)	missense	probably damaging	0.99
R5996:1700093K21Rik	UTSW	11	23,468,928 (GRCm39)	start codon destroyed	probably null	0.53
R6072:1700093K21Rik	UTSW	11	23,467,357 (GRCm39)	missense	probably benign	0.16
R6520:1700093K21Rik	UTSW	11	23,467,285 (GRCm39)	missense	possibly damaging	0.63
R6930:1700093K21Rik	UTSW	11	23,466,563 (GRCm39)	missense	probably benign	0.03
R7432:1700093K21Rik	UTSW	11	23,468,839 (GRCm39)	missense	probably benign	0.07
R7558:1700093K21Rik	UTSW	11	23,466,285 (GRCm39)	splice site	probably null
R8077:1700093K21Rik	UTSW	11	23,467,237 (GRCm39)	missense	probably benign
R9688:1700093K21Rik	UTSW	11	23,469,067 (GRCm39)	critical splice donor site	probably null
Z1177:1700093K21Rik	UTSW	11	23,468,144 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-10-07