Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:1700093K21Rik'

484448

Institutional Source

Beutler Lab

Gene Symbol

1700093K21Rik

Ensembl Gene

ENSMUSG00000020286

Gene Name

RIKEN cDNA 1700093K21 gene

Synonyms

b2b3025Clo

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

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

Stock #

R5485 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

23466203-23471155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23467378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 85 (V85D)

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 benign
Transcript: ENSMUST00000020527
AA Change: V85D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020527
Gene: ENSMUSG00000020286
AA Change: V85D

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 benign
Transcript: ENSMUST00000169264
AA Change: V85D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131204
Gene: ENSMUSG00000020286
AA Change: V85D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Sbsn	T	C	7: 30,452,542 (GRCm39)	V519A	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	Het

Other mutations in 1700093K21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:1700093K21Rik	APN	11	23,467,213 (GRCm39)	missense	probably null	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AACATGTCACCTCATGGTTGG -3'
(R):5'- AAATGACATCCAGTTGGCAAC -3'

Sequencing Primer
(F):5'- GGTTTCTCTAGCATTCACAGGC -3'
(R):5'- GGCAACAAATAGTCTCTGAACTC -3'

Posted On

2017-07-18