Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:2610028H24Rik'

596556

Institutional Source

Beutler Lab

Gene Symbol

2610028H24Rik

Ensembl Gene

ENSMUSG00000009114

Gene Name

RIKEN cDNA 2610028H24 gene

Synonyms

ORF67

MMRRC Submission

045797-MU

Accession Numbers

Essential gene?

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

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76284915-76296944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76290551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 118 (P118S)

Ref Sequence

ENSEMBL: ENSMUSP00000090061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049185] [ENSMUST00000092406] [ENSMUST00000105415]

AlphaFold

G5E8K1

Predicted Effect

probably benign
Transcript: ENSMUST00000049185

SMART Domains

Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126

Domain	Start	End	E-Value	Type
Pfam:UPF0054	8	148	7.6e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000092406
AA Change: P118S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: P118S

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: P97S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: P97S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,656,343 (GRCm39)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,902,914 (GRCm39)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,194,332 (GRCm39)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,506,752 (GRCm39)	R445H	probably benign	Het
Capn2	C	A	1: 182,307,288 (GRCm39)	E517*	probably null	Het
Celsr1	A	T	15: 85,863,303 (GRCm39)	V1243E	possibly damaging	Het
Cenpe	C	G	3: 134,953,096 (GRCm39)		probably null	Het
Cep135	A	G	5: 76,778,817 (GRCm39)	E748G	probably damaging	Het
Cfap119	C	A	7: 127,187,159 (GRCm39)	V35L	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Col6a1	C	A	10: 76,545,743 (GRCm39)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,347,156 (GRCm39)		probably null	Het
Dot1l	C	T	10: 80,619,378 (GRCm39)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,695,594 (GRCm39)	T555A	probably benign	Het
Foxn3	T	C	12: 99,162,587 (GRCm39)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,103,001 (GRCm39)	F320S	probably damaging	Het
Grn	A	G	11: 102,326,560 (GRCm39)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,838,963 (GRCm39)	M3K	possibly damaging	Het
Il17rd	A	G	14: 26,822,293 (GRCm39)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,187,500 (GRCm39)	D288G	possibly damaging	Het
Klk1b11	G	A	7: 43,426,421 (GRCm39)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,719,359 (GRCm39)	V3914A	unknown	Het
Map2k2	T	C	10: 80,956,877 (GRCm39)	V307A	probably benign	Het
Mst1r	G	T	9: 107,784,319 (GRCm39)		probably benign	Het
Nr3c2	A	G	8: 77,937,275 (GRCm39)	E834G	probably damaging	Het
Oga	A	T	19: 45,764,501 (GRCm39)	L213H	probably damaging	Het
Ogfod3	T	G	11: 121,074,362 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,423 (GRCm39)	Y216F	probably damaging	Het
Or8d2	T	C	9: 38,759,614 (GRCm39)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,364,693 (GRCm39)		probably null	Het
Pou2f1	A	G	1: 165,703,444 (GRCm39)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,155,701 (GRCm39)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,291,108 (GRCm39)		probably null	Het
Rbbp4	T	C	4: 129,228,356 (GRCm39)	D33G	probably damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,557,067 (GRCm39)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,404,454 (GRCm39)		probably null	Het
Sdc1	A	G	12: 8,841,370 (GRCm39)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,357,593 (GRCm39)	Y133C	probably damaging	Het
Snx31	A	G	15: 36,523,587 (GRCm39)		probably null	Het
Snx7	A	G	3: 117,632,488 (GRCm39)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,934,438 (GRCm39)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,651,581 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,197,756 (GRCm39)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,709,263 (GRCm39)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,179,088 (GRCm39)	V499E	probably damaging	Het
Tshr	G	A	12: 91,500,743 (GRCm39)	W258*	probably null	Het
Usp32	G	T	11: 84,878,107 (GRCm39)	D1543E	probably damaging	Het
Usp39	A	G	6: 72,315,521 (GRCm39)		probably benign	Het
Vac14	T	C	8: 111,361,020 (GRCm39)	S197P	probably damaging	Het
Vars2	A	G	17: 35,971,835 (GRCm39)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm39)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,157,847 (GRCm39)	Q783R	possibly damaging	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
R5808:2610028H24Rik	UTSW	10	76,286,482 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTTCTAAAGCAGAGGAGGTGG -3'
(R):5'- CATTAGGAAAACACCTACTTAGGAC -3'

Sequencing Primer
(F):5'- AAGACATCTGTCCTTTGGGCAAG -3'
(R):5'- AAACACCTACTTAGGACATATTTTCC -3'

Posted On

2019-11-26