Mutagenetix > Incidental Mutation

Incidental Mutation 'R5808:2610028H24Rik'

448847

Institutional Source

Beutler Lab

Gene Symbol

2610028H24Rik

Ensembl Gene

ENSMUSG00000009114

Gene Name

RIKEN cDNA 2610028H24 gene

Synonyms

ORF67

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76284915-76296944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76286482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 6 (R6W)

Ref Sequence

ENSEMBL: ENSMUSP00000101055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092406] [ENSMUST00000105415]

AlphaFold

G5E8K1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092406
AA Change: R27W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: R27W

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
low complexity region	94	140	N/A	INTRINSIC
Pfam:DUF4587	145	216	7.6e-33	PFAM
low complexity region	223	235	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105415
AA Change: R6W

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

SMART Domains

Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: R6W

Domain	Start	End	E-Value	Type
low complexity region	73	119	N/A	INTRINSIC
Pfam:DUF4587	124	195	4.4e-34	PFAM
low complexity region	202	214	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,987,599 (GRCm39)	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,685,561 (GRCm39)	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,365,298 (GRCm39)	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,250,812 (GRCm39)	V866E	probably benign	Het
Bmpr2	A	T	1: 59,906,560 (GRCm39)	Y551F	probably benign	Het
Cage1	A	G	13: 38,206,301 (GRCm39)		probably benign	Het
Caskin2	G	T	11: 115,692,589 (GRCm39)	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,746 (GRCm39)		probably null	Het
Ccdc162	A	T	10: 41,531,500 (GRCm39)	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,670,657 (GRCm39)	D197G	probably damaging	Het
CN725425	T	A	15: 91,129,847 (GRCm39)	S237T	probably benign	Het
Defb40	T	C	8: 19,025,095 (GRCm39)	H37R	probably benign	Het
Dis3l2	A	C	1: 86,977,360 (GRCm39)	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,568,724 (GRCm39)	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 67,102,621 (GRCm39)		probably null	Het
Dsc1	A	T	18: 20,219,886 (GRCm39)	C761*	probably null	Het
Dsg1b	A	T	18: 20,541,782 (GRCm39)	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,820,812 (GRCm39)	P251L	probably benign	Het
Epha6	A	T	16: 59,503,105 (GRCm39)	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,790,744 (GRCm39)	E122G	probably damaging	Het
Filip1	C	T	9: 79,725,983 (GRCm39)	G879R	possibly damaging	Het
Frem2	A	T	3: 53,559,984 (GRCm39)	F1508I	probably damaging	Het
Gja1	A	G	10: 56,264,594 (GRCm39)	N318D	probably benign	Het
Gm11564	T	C	11: 99,705,867 (GRCm39)	S188G	unknown	Het
Hlcs	A	G	16: 94,063,491 (GRCm39)	V523A	probably benign	Het
Kif1a	C	A	1: 92,970,420 (GRCm39)	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,559,289 (GRCm39)	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,201,732 (GRCm39)	L453S	probably damaging	Het
Mcf2l	A	G	8: 13,043,937 (GRCm39)	M1V	probably null	Het
Megf6	A	G	4: 154,352,119 (GRCm39)	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,633,781 (GRCm39)	I631N	probably benign	Het
Muc6	T	C	7: 141,226,360 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,428 (GRCm39)	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,720,127 (GRCm39)	F1017L	probably benign	Het
Nup62	A	C	7: 44,479,416 (GRCm39)	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,117,653 (GRCm39)	I42F	probably benign	Het
Ptprb	G	A	10: 116,175,392 (GRCm39)	R1129K	probably benign	Het
Rexo4	T	A	2: 26,854,197 (GRCm39)	K45I	probably damaging	Het
Rnf213	G	A	11: 119,327,121 (GRCm39)	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,373,908 (GRCm39)	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc41a2	T	C	10: 83,149,362 (GRCm39)	T194A	probably benign	Het
Slc4a10	G	A	2: 62,080,816 (GRCm39)	A348T	probably damaging	Het
Soat2	G	A	15: 102,062,460 (GRCm39)		probably null	Het
Srms	T	C	2: 180,850,548 (GRCm39)	S204G	probably benign	Het
Szt2	G	A	4: 118,229,810 (GRCm39)	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,896,973 (GRCm39)	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,467,559 (GRCm39)	R29H	probably benign	Het
Trappc12	T	A	12: 28,796,863 (GRCm39)	D223V	probably damaging	Het
Ttc6	T	A	12: 57,664,397 (GRCm39)	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,791,573 (GRCm39)	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,792,597 (GRCm39)	C641*	probably null	Het
Vrk3	A	G	7: 44,409,298 (GRCm39)	D155G	probably damaging	Het
Xxylt1	T	C	16: 30,869,503 (GRCm39)	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,065,363 (GRCm39)	D262E	probably benign	Het
Zcchc9	A	T	13: 91,948,766 (GRCm39)	S58T	probably benign	Het
Zfp747l1	A	T	7: 126,984,085 (GRCm39)		probably benign	Het
Zfyve16	A	T	13: 92,631,563 (GRCm39)	L1344*	probably null	Het

Other mutations in 2610028H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02400:2610028H24Rik	APN	10	76,290,644 (GRCm39)	missense	possibly damaging	0.75
IGL02951:2610028H24Rik	APN	10	76,290,536 (GRCm39)	splice site	probably benign
PIT4283001:2610028H24Rik	UTSW	10	76,285,093 (GRCm39)	start codon destroyed	probably benign	0.01
R0013:2610028H24Rik	UTSW	10	76,293,346 (GRCm39)	missense	probably benign	0.32
R0295:2610028H24Rik	UTSW	10	76,290,642 (GRCm39)	missense	probably damaging	0.99
R2018:2610028H24Rik	UTSW	10	76,293,899 (GRCm39)	missense	possibly damaging	0.85
R2019:2610028H24Rik	UTSW	10	76,293,899 (GRCm39)	missense	possibly damaging	0.85
R2128:2610028H24Rik	UTSW	10	76,293,349 (GRCm39)	missense	possibly damaging	0.93
R2129:2610028H24Rik	UTSW	10	76,293,349 (GRCm39)	missense	possibly damaging	0.93
R4776:2610028H24Rik	UTSW	10	76,293,346 (GRCm39)	missense	probably benign	0.16
R5638:2610028H24Rik	UTSW	10	76,288,729 (GRCm39)	missense	probably benign	0.17
R5896:2610028H24Rik	UTSW	10	76,288,664 (GRCm39)	missense	probably benign	0.01
R5990:2610028H24Rik	UTSW	10	76,285,123 (GRCm39)	missense	probably benign	0.08
R6238:2610028H24Rik	UTSW	10	76,285,096 (GRCm39)	missense	possibly damaging	0.86
R6505:2610028H24Rik	UTSW	10	76,285,115 (GRCm39)	missense	probably benign	0.02
R7741:2610028H24Rik	UTSW	10	76,290,551 (GRCm39)	missense	probably damaging	0.99
R9210:2610028H24Rik	UTSW	10	76,287,165 (GRCm39)	missense	probably damaging	0.99
R9558:2610028H24Rik	UTSW	10	76,290,576 (GRCm39)	missense	probably damaging	1.00
X0026:2610028H24Rik	UTSW	10	76,293,925 (GRCm39)	missense	possibly damaging	0.91
Z1176:2610028H24Rik	UTSW	10	76,288,697 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCGTCCCTCTGGGTTTAGG -3'
(R):5'- ACAAGATGCACTCCCTCTAGG -3'

Sequencing Primer
(F):5'- TAATCCTTAACAGAATGGGGGCCC -3'
(R):5'- TCCCTCTAGGAGCCTGCTG -3'

Posted On

2016-12-15