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: 0.059) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76449081-76461110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76450648 bp (GRCm38)

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
9130019O22Rik	A	T	7: 127,384,913		probably benign	Het
Ahnak	T	A	19: 9,010,235	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,708,197	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,146,322	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,221,958	V866E	probably benign	Het
Bmpr2	A	T	1: 59,867,401	Y551F	probably benign	Het
Cage1	A	G	13: 38,022,325		probably benign	Het
Caskin2	G	T	11: 115,801,763	P732Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,517,826		probably null	Het
Ccdc162	A	T	10: 41,655,504	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,780,645	D197G	probably damaging	Het
CN725425	T	A	15: 91,245,644	S237T	probably benign	Het
Defb40	T	C	8: 18,975,079	H37R	probably benign	Het
Dis3l2	A	C	1: 87,049,638	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,741,159	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 66,865,172		probably null	Het
Dsc1	A	T	18: 20,086,829	C761*	probably null	Het
Dsg1b	A	T	18: 20,408,725	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,883,994	P251L	probably benign	Het
Epha6	A	T	16: 59,682,742	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,970,382	E122G	probably damaging	Het
Filip1	C	T	9: 79,818,701	G879R	possibly damaging	Het
Frem2	A	T	3: 53,652,563	F1508I	probably damaging	Het
Gja1	A	G	10: 56,388,498	N318D	probably benign	Het
Gm11564	T	C	11: 99,815,041	S188G	unknown	Het
Hlcs	A	G	16: 94,262,632	V523A	probably benign	Het
Kif1a	C	A	1: 93,042,698	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,910,082	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,294,449	L453S	probably damaging	Het
Mcf2l	A	G	8: 12,993,937	M1V	probably null	Het
Megf6	A	G	4: 154,267,662	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,683,781	I631N	probably benign	Het
Muc6	T	C	7: 141,640,093		probably benign	Het
Mybpc1	T	C	10: 88,570,566	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,829,301	F1017L	probably benign	Het
Nup62	A	C	7: 44,829,992	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,210,232	I42F	probably benign	Het
Ptprb	G	A	10: 116,339,487	R1129K	probably benign	Het
Rexo4	T	A	2: 26,964,185	K45I	probably damaging	Het
Rnf213	G	A	11: 119,436,295	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,772,184	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc41a2	T	C	10: 83,313,498	T194A	probably benign	Het
Slc4a10	G	A	2: 62,250,472	A348T	probably damaging	Het
Soat2	G	A	15: 102,154,025		probably null	Het
Srms	T	C	2: 181,208,755	S204G	probably benign	Het
Szt2	G	A	4: 118,372,613	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,908,541	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,560,243	R29H	probably benign	Het
Trappc12	T	A	12: 28,746,864	D223V	probably damaging	Het
Ttc6	T	A	12: 57,617,611	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,961,092	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,815,638	C641*	probably null	Het
Vrk3	A	G	7: 44,759,874	D155G	probably damaging	Het
Xxylt1	T	C	16: 31,050,685	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,423,570	D262E	probably benign	Het
Zcchc9	A	T	13: 91,800,647	S58T	probably benign	Het
Zfyve16	A	T	13: 92,495,055	L1344*	probably null	Het

Other mutations in 2610028H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02400:2610028H24Rik	APN	10	76454810	missense	possibly damaging	0.75
IGL02951:2610028H24Rik	APN	10	76454702	splice site	probably benign
PIT4283001:2610028H24Rik	UTSW	10	76449259	start codon destroyed	probably benign	0.01
R0013:2610028H24Rik	UTSW	10	76457512	missense	probably benign	0.32
R0295:2610028H24Rik	UTSW	10	76454808	missense	probably damaging	0.99
R2018:2610028H24Rik	UTSW	10	76458065	missense	possibly damaging	0.85
R2019:2610028H24Rik	UTSW	10	76458065	missense	possibly damaging	0.85
R2128:2610028H24Rik	UTSW	10	76457515	missense	possibly damaging	0.93
R2129:2610028H24Rik	UTSW	10	76457515	missense	possibly damaging	0.93
R4776:2610028H24Rik	UTSW	10	76457512	missense	probably benign	0.16
R5638:2610028H24Rik	UTSW	10	76452895	missense	probably benign	0.17
R5896:2610028H24Rik	UTSW	10	76452830	missense	probably benign	0.01
R5990:2610028H24Rik	UTSW	10	76449289	missense	probably benign	0.08
R6238:2610028H24Rik	UTSW	10	76449262	missense	possibly damaging	0.86
R6505:2610028H24Rik	UTSW	10	76449281	missense	probably benign	0.02
R7741:2610028H24Rik	UTSW	10	76454717	missense	probably damaging	0.99
R9210:2610028H24Rik	UTSW	10	76451331	missense	probably damaging	0.99
R9558:2610028H24Rik	UTSW	10	76454742	missense	probably damaging	1.00
X0026:2610028H24Rik	UTSW	10	76458091	missense	possibly damaging	0.91
Z1176:2610028H24Rik	UTSW	10	76452863	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