Mutagenetix > Incidental Mutation

Incidental Mutation 'R4931:2410004B18Rik'

439433

Institutional Source

Beutler Lab

Gene Symbol

2410004B18Rik

Ensembl Gene

ENSMUSG00000036873

Gene Name

RIKEN cDNA 2410004B18 gene

Synonyms

MMRRC Submission

042532-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R4931 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

145643769-145650584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145643875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 21 (D21G)

Ref Sequence

ENSEMBL: ENSMUSP00000119149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029842] [ENSMUST00000039571] [ENSMUST00000134575]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029842

SMART Domains

Protein: ENSMUSP00000029842
Gene: ENSMUSG00000028191

Domain	Start	End	E-Value	Type
Pfam:CARD	18	102	8e-20	PFAM
low complexity region	192	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039571
AA Change: D21G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045376
Gene: ENSMUSG00000036873
AA Change: D21G

Domain	Start	End	E-Value	Type
Pfam:DUF4660	20	125	2.8e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134575
AA Change: D21G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119149
Gene: ENSMUSG00000036873
AA Change: D21G

Domain	Start	End	E-Value	Type
Pfam:DUF4660	19	97	2.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138876

Predicted Effect

probably benign
Transcript: ENSMUST00000152783

SMART Domains

Protein: ENSMUSP00000118224
Gene: ENSMUSG00000036873

Domain	Start	End	E-Value	Type
Pfam:DUF4660	1	53	6.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189656

Predicted Effect

probably benign
Transcript: ENSMUST00000190472

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (78/82)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,678,910 (GRCm39)	L68P	possibly damaging	Het
Ache	A	G	5: 137,290,176 (GRCm39)	I414V	probably benign	Het
Acy1	G	A	9: 106,310,390 (GRCm39)	H308Y	probably damaging	Het
Aldh1b1	A	C	4: 45,803,661 (GRCm39)	I400L	probably benign	Het
Ankrd40	T	A	11: 94,225,647 (GRCm39)	L226Q	probably benign	Het
B3gnt9	T	C	8: 105,980,876 (GRCm39)	T171A	probably benign	Het
Ccdc33	T	C	9: 57,977,134 (GRCm39)	Y289C	probably damaging	Het
Cd209f	A	T	8: 4,153,688 (GRCm39)	I187N	probably damaging	Het
Cers6	T	G	2: 68,935,456 (GRCm39)	S319A	probably damaging	Het
Chrna4	A	G	2: 180,670,665 (GRCm39)	S364P	probably benign	Het
Chrnb3	T	C	8: 27,884,258 (GRCm39)	S317P	probably damaging	Het
Dapk1	T	C	13: 60,908,774 (GRCm39)	V1129A	probably benign	Het
Dhx9	G	A	1: 153,348,419 (GRCm39)	P302L	probably benign	Het
Dnaaf9	A	G	2: 130,583,793 (GRCm39)	F496L	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Duox2	T	C	2: 122,127,236 (GRCm39)	N147S	probably benign	Het
Dytn	T	G	1: 63,672,837 (GRCm39)	E522A	probably benign	Het
E130114P18Rik	T	C	4: 97,608,524 (GRCm39)	D27G	unknown	Het
Egf	A	G	3: 129,505,117 (GRCm39)	F118S	probably damaging	Het
Eif2d	T	A	1: 131,082,128 (GRCm39)	F73L	probably damaging	Het
Eps8l1	A	G	7: 4,474,240 (GRCm39)	E237G	possibly damaging	Het
Espl1	A	G	15: 102,214,165 (GRCm39)	E664G	probably benign	Het
Fbrsl1	A	T	5: 110,526,895 (GRCm39)	S373T	possibly damaging	Het
Fras1	T	A	5: 96,784,699 (GRCm39)	F894Y	probably benign	Het
Gpatch8	T	C	11: 102,372,050 (GRCm39)	E496G	unknown	Het
Gucy1a2	A	G	9: 3,759,588 (GRCm39)	K465E	probably damaging	Het
Igdcc4	A	G	9: 65,031,297 (GRCm39)	T459A	possibly damaging	Het
Itgad	A	T	7: 127,803,797 (GRCm39)	I64F	probably damaging	Het
Itgb2l	T	A	16: 96,238,649 (GRCm39)	N50I	probably damaging	Het
Kif13a	A	G	13: 46,962,531 (GRCm39)	I478T	probably damaging	Het
Krt31	G	A	11: 99,940,983 (GRCm39)	T109I	probably benign	Het
Ltbr	G	T	6: 125,284,437 (GRCm39)		probably null	Het
Magel2	A	G	7: 62,030,372 (GRCm39)	D1092G	unknown	Het
Minar1	T	C	9: 89,483,705 (GRCm39)	H564R	probably benign	Het
Mindy3	A	T	2: 12,401,024 (GRCm39)	N231K	probably damaging	Het
Mpnd	T	G	17: 56,319,362 (GRCm39)		probably benign	Het
Mtus2	C	T	5: 148,014,226 (GRCm39)	L340F	probably benign	Het
Nanog	G	A	6: 122,684,865 (GRCm39)	A17T	possibly damaging	Het
Ndufa9	G	T	6: 126,813,283 (GRCm39)	A181E	probably damaging	Het
Or52z14	T	G	7: 103,253,581 (GRCm39)	L240R	probably benign	Het
Or7e175	A	T	9: 20,048,858 (GRCm39)	I149F	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Pramel18	T	C	4: 101,766,367 (GRCm39)	V17A	possibly damaging	Het
Prkacb	T	C	3: 146,453,732 (GRCm39)	I211V	possibly damaging	Het
Ptpn14	C	G	1: 189,583,474 (GRCm39)	L774V	probably benign	Het
Rad1	T	C	15: 10,492,848 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,573,028 (GRCm39)	P391Q	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sf3b3	C	T	8: 111,542,961 (GRCm39)	R832Q	probably benign	Het
Slc12a2	A	G	18: 58,068,035 (GRCm39)	D975G	possibly damaging	Het
Slitrk6	A	G	14: 110,987,811 (GRCm39)	L632P	probably damaging	Het
Spire2	A	G	8: 124,095,523 (GRCm39)	D542G	possibly damaging	Het
Sppl3	A	T	5: 115,220,373 (GRCm39)	Q95L	probably damaging	Het
Stat5b	C	A	11: 100,675,080 (GRCm39)	E710*	probably null	Het
Tcl1	G	T	12: 105,188,872 (GRCm39)	H14N	probably damaging	Het
Ten1	T	C	11: 116,096,555 (GRCm39)	F70L	probably benign	Het
Tnfrsf13b	A	T	11: 61,031,763 (GRCm39)	T35S	possibly damaging	Het
Tpcn2	G	A	7: 144,821,046 (GRCm39)	P336L	probably benign	Het
Trf	C	A	9: 103,105,247 (GRCm39)	D22Y	probably damaging	Het
Ttyh1	A	G	7: 4,136,943 (GRCm39)		probably benign	Het
Vmn2r103	A	T	17: 20,032,031 (GRCm39)	I602F	probably benign	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp352	A	G	4: 90,112,541 (GRCm39)	Y227C	probably damaging	Het
Zfp599	A	T	9: 22,169,419 (GRCm39)	W18R	probably damaging	Het

Other mutations in 2410004B18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0243:2410004B18Rik	UTSW	3	145,643,833 (GRCm39)	missense	probably damaging	1.00
R1960:2410004B18Rik	UTSW	3	145,643,976 (GRCm39)	missense	probably damaging	1.00
R4155:2410004B18Rik	UTSW	3	145,644,018 (GRCm39)	missense	possibly damaging	0.70
R4156:2410004B18Rik	UTSW	3	145,644,018 (GRCm39)	missense	possibly damaging	0.70
R5545:2410004B18Rik	UTSW	3	145,644,853 (GRCm39)	critical splice donor site	probably null
R6958:2410004B18Rik	UTSW	3	145,649,558 (GRCm39)	missense	probably benign	0.24
R7862:2410004B18Rik	UTSW	3	145,649,624 (GRCm39)	makesense	probably null
R9047:2410004B18Rik	UTSW	3	145,644,848 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAATAACTTGCTTGAGGGCTGTG -3'
(R):5'- CCCAGTCGATCTGCTTGTTG -3'

Sequencing Primer
(F):5'- AATCTCCGCCCATGAGTAGGAG -3'
(R):5'- TTGAGCGGGTTGTAGAGGAAG -3'

Posted On

2016-10-28