Mutagenetix > Incidental Mutation

Incidental Mutation 'R9558:2610028H24Rik'

720866

Institutional Source

Beutler Lab

Gene Symbol

2610028H24Rik

Ensembl Gene

ENSMUSG00000009114

Gene Name

RIKEN cDNA 2610028H24 gene

Synonyms

ORF67

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76284915-76296944 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76290576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 126 (P126L)

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: P126L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: P126L

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: P105L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: P105L

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,932,043 (GRCm39)	I219N	probably damaging	Het
Ash1l	A	G	3: 88,889,521 (GRCm39)	S467G	probably benign	Het
Atm	T	C	9: 53,412,081 (GRCm39)	I992V	probably benign	Het
Bdnf	T	C	2: 109,539,999 (GRCm39)	V31A		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccnk	A	T	12: 108,155,397 (GRCm39)	K118I	possibly damaging	Het
Ccr2	T	A	9: 123,906,104 (GRCm39)	V128E	possibly damaging	Het
Cd163	C	A	6: 124,297,471 (GRCm39)	N872K	probably benign	Het
Cd38	A	G	5: 44,057,792 (GRCm39)	I121M	probably damaging	Het
Cntnap5c	A	T	17: 58,671,157 (GRCm39)		probably null	Het
Cyp11b1	T	C	15: 74,710,789 (GRCm39)	E257G	probably benign	Het
Cyp2d40	T	C	15: 82,645,667 (GRCm39)	T113A	unknown	Het
Ddx23	A	G	15: 98,545,433 (GRCm39)	V625A	possibly damaging	Het
Dnaaf9	T	C	2: 130,617,660 (GRCm39)	N433D	probably damaging	Het
Fbxw17	T	C	13: 50,577,311 (GRCm39)	Y68H	probably damaging	Het
Fignl1	C	T	11: 11,751,778 (GRCm39)	V426I	possibly damaging	Het
Ggn	C	G	7: 28,871,973 (GRCm39)	P487R	probably damaging	Het
Gjb6	G	A	14: 57,362,261 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,576,014 (GRCm39)	F2L	possibly damaging	Het
Il1r2	A	G	1: 40,162,422 (GRCm39)	E355G	probably damaging	Het
Itprid1	T	A	6: 55,944,969 (GRCm39)	H563Q	possibly damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Lama1	A	G	17: 68,124,004 (GRCm39)	T2810A		Het
Ltn1	A	T	16: 87,220,295 (GRCm39)	S267R	probably benign	Het
Mapre2	T	A	18: 23,991,195 (GRCm39)	H196Q	possibly damaging	Het
Mfap4	A	C	11: 61,376,965 (GRCm39)	S65R	probably benign	Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh3	T	A	11: 66,983,316 (GRCm39)	C948S	possibly damaging	Het
Ndufa8	A	G	2: 35,926,605 (GRCm39)	S144P	probably benign	Het
Nudc	G	A	4: 133,260,776 (GRCm39)	R257C	probably benign	Het
Nufip1	A	G	14: 76,348,481 (GRCm39)	M37V	probably benign	Het
Ogn	A	G	13: 49,764,783 (GRCm39)	E61G	probably benign	Het
Or52n5	T	C	7: 104,588,615 (GRCm39)	V294A	possibly damaging	Het
Pcdh8	A	G	14: 80,006,380 (GRCm39)	S728P	probably damaging	Het
Pdzrn4	A	G	15: 92,299,877 (GRCm39)	D249G	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Setd2	C	T	9: 110,376,628 (GRCm39)	H148Y	probably damaging	Het
Smok2b	G	A	17: 13,453,884 (GRCm39)	G15R	probably damaging	Het
Sun1	A	G	5: 139,211,019 (GRCm39)	T91A	probably benign	Het
Tbc1d31	G	A	15: 57,795,988 (GRCm39)	A194T	probably damaging	Het
Tiparp	C	T	3: 65,438,852 (GRCm39)	S56F	possibly damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Trip6	A	G	5: 137,309,075 (GRCm39)	S344P	probably benign	Het
Ube2q1	A	G	3: 89,686,766 (GRCm39)	K207E	probably benign	Het
Ubr2	A	G	17: 47,262,843 (GRCm39)	V1256A	probably benign	Het
Vmn1r69	T	A	7: 10,314,185 (GRCm39)	Y182F	probably benign	Het
Wipf1	C	A	2: 73,268,020 (GRCm39)	R126L	probably damaging	Het
Zc3hav1	T	C	6: 38,331,042 (GRCm39)	E39G	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
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
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'- AGACATCTGTCCTTTGGGCAAG -3'
(R):5'- GCCACCTACTTAGAAAATATTCTCAT -3'

Sequencing Primer
(F):5'- CAGCCATTCATAGCAGAGGG -3'
(R):5'- TCATTAGGAAAACACCTACTTAGGAC -3'

Posted On

2022-08-09