Mutagenetix > Incidental Mutation

Incidental Mutation 'R9296:D930020B18Rik'

704610

Institutional Source

Beutler Lab

Gene Symbol

D930020B18Rik

Ensembl Gene

ENSMUSG00000047642

Gene Name

RIKEN cDNA D930020B18 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121477493-121529820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121497011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 149 (R149G)

Ref Sequence

ENSEMBL: ENSMUSP00000113963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802] [ENSMUST00000142501]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120642
AA Change: R149G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: R149G

Domain	Start	End	E-Value	Type
Pfam:DUF4551	11	617	3.2e-237	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132744
AA Change: R131G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: R131G

Domain	Start	End	E-Value	Type
Pfam:DUF4551	1	148	3.6e-66	PFAM
Pfam:DUF4551	142	443	6.1e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140802

SMART Domains

Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642

Domain	Start	End	E-Value	Type
Pfam:DUF4551	1	151	8.7e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142501

SMART Domains

Protein: ENSMUSP00000118939
Gene: ENSMUSG00000047642

Domain	Start	End	E-Value	Type
Pfam:DUF4551	1	182	1.3e-74	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	T	G	6: 87,114,409 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,124,612 (GRCm39)	Y951F	probably damaging	Het
Arhgap44	G	T	11: 64,957,933 (GRCm39)	A83E	probably damaging	Het
Bmpr2	T	C	1: 59,906,502 (GRCm39)	S532P	probably damaging	Het
Brd7	T	C	8: 89,059,560 (GRCm39)	I617V	possibly damaging	Het
Brsk2	A	C	7: 141,552,375 (GRCm39)	S620R	probably benign	Het
C3	T	C	17: 57,511,291 (GRCm39)	M1604V	probably benign	Het
Cacna2d1	G	A	5: 16,564,068 (GRCm39)	R917H	probably damaging	Het
Ccdc17	T	A	4: 116,456,586 (GRCm39)	F452I	probably damaging	Het
Cfap221	T	C	1: 119,883,467 (GRCm39)	I235V	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Ciita	G	A	16: 10,321,812 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,495,997 (GRCm39)	K47E	probably damaging	Het
Cyp2d12	C	T	15: 82,440,435 (GRCm39)	Q75*	probably null	Het
Cyp4f18	C	T	8: 72,756,301 (GRCm39)	V92M	probably benign	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dmtf1	A	C	5: 9,190,467 (GRCm39)	D82E	probably benign	Het
Dnah1	T	C	14: 30,996,011 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,173,089 (GRCm39)	D183E	possibly damaging	Het
Fbln5	A	T	12: 101,780,853 (GRCm39)	I7K	probably benign	Het
Fermt3	C	T	19: 6,980,865 (GRCm39)	E289K	possibly damaging	Het
Gm10762	T	A	2: 128,809,149 (GRCm39)	R67W	unknown	Het
Gm5089	A	G	14: 122,673,554 (GRCm39)	S56P	unknown	Het
H2-T5	C	T	17: 36,479,169 (GRCm39)	G27R	unknown	Het
Itih1	A	G	14: 30,653,251 (GRCm39)	F730L	probably benign	Het
Macf1	T	C	4: 123,400,246 (GRCm39)	H683R	probably damaging	Het
Mapk3	T	A	7: 126,363,518 (GRCm39)	F297L		Het
Mfap3l	G	A	8: 61,124,615 (GRCm39)	V286I	possibly damaging	Het
Myh4	A	G	11: 67,146,130 (GRCm39)	K1396R	possibly damaging	Het
Mylk3	A	T	8: 86,085,561 (GRCm39)	S324R	probably benign	Het
Ndufv3	T	C	17: 31,739,197 (GRCm39)	S4P	probably benign	Het
Nebl	A	T	2: 17,429,451 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,956,388 (GRCm39)	S119T		Het
Or6k4	A	T	1: 173,964,835 (GRCm39)	H175L	probably benign	Het
Pcdhgb4	T	A	18: 37,853,777 (GRCm39)	S57R	probably benign	Het
Pcyox1	A	G	6: 86,368,735 (GRCm39)	L261P	probably damaging	Het
Plekhm3	G	T	1: 64,961,639 (GRCm39)	H206N	probably benign	Het
Polr2a	T	C	11: 69,625,562 (GRCm39)	T1863A	probably benign	Het
Prl7c1	T	A	13: 27,962,812 (GRCm39)	I64L	probably benign	Het
Psg17	A	T	7: 18,553,991 (GRCm39)	N86K	probably benign	Het
Rab37	A	G	11: 115,045,065 (GRCm39)	E14G	probably benign	Het
Rad54l2	T	A	9: 106,579,942 (GRCm39)	K976N	probably damaging	Het
Rnf213	A	T	11: 119,334,621 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,472,062 (GRCm39)	D602E	probably damaging	Het
Slc22a30	T	A	19: 8,364,119 (GRCm39)	T186S	probably benign	Het
Slc22a4	A	T	11: 53,888,217 (GRCm39)	C270*	probably null	Het
Slc6a4	T	C	11: 76,909,110 (GRCm39)	V374A	probably benign	Het
Spg11	T	C	2: 121,945,175 (GRCm39)	D115G	probably benign	Het
Susd1	T	C	4: 59,427,865 (GRCm39)		probably benign	Het
Tor1a	A	T	2: 30,851,104 (GRCm39)	M286K	probably damaging	Het
Trim12c	G	T	7: 103,994,185 (GRCm39)	A223D		Het
Usp32	A	G	11: 84,908,478 (GRCm39)	I1076T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r101	G	A	17: 19,810,047 (GRCm39)	D278N	probably damaging	Het
Zan	C	T	5: 137,387,138 (GRCm39)	V4972I	unknown	Het

Other mutations in D930020B18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:D930020B18Rik	APN	10	121,521,489 (GRCm39)	missense	probably damaging	1.00
IGL01669:D930020B18Rik	APN	10	121,519,866 (GRCm39)	missense	probably benign	0.03
IGL01793:D930020B18Rik	APN	10	121,507,736 (GRCm39)	missense	probably damaging	1.00
IGL01907:D930020B18Rik	APN	10	121,477,915 (GRCm39)	missense	probably damaging	0.97
IGL01981:D930020B18Rik	APN	10	121,528,319 (GRCm39)	missense	probably damaging	0.98
IGL02545:D930020B18Rik	APN	10	121,525,838 (GRCm39)	missense	possibly damaging	0.87
IGL03024:D930020B18Rik	APN	10	121,521,527 (GRCm39)	splice site	probably benign
bazooka_joe	UTSW	10	121,503,709 (GRCm39)	missense	probably benign	0.19
sluggo	UTSW	10	121,490,741 (GRCm39)	missense	probably damaging	1.00
R0022:D930020B18Rik	UTSW	10	121,507,675 (GRCm39)	missense	probably damaging	0.97
R0023:D930020B18Rik	UTSW	10	121,525,726 (GRCm39)	missense	probably damaging	0.99
R1872:D930020B18Rik	UTSW	10	121,477,879 (GRCm39)	missense	probably damaging	1.00
R2340:D930020B18Rik	UTSW	10	121,490,741 (GRCm39)	missense	probably damaging	1.00
R4074:D930020B18Rik	UTSW	10	121,492,123 (GRCm39)	intron	probably benign
R4990:D930020B18Rik	UTSW	10	121,490,667 (GRCm39)	missense	probably damaging	1.00
R4990:D930020B18Rik	UTSW	10	121,490,666 (GRCm39)	missense	probably damaging	1.00
R4992:D930020B18Rik	UTSW	10	121,490,667 (GRCm39)	missense	probably damaging	1.00
R4992:D930020B18Rik	UTSW	10	121,490,666 (GRCm39)	missense	probably damaging	1.00
R5096:D930020B18Rik	UTSW	10	121,503,709 (GRCm39)	missense	probably benign	0.19
R5677:D930020B18Rik	UTSW	10	121,505,106 (GRCm39)	missense	probably benign	0.00
R6401:D930020B18Rik	UTSW	10	121,477,762 (GRCm39)	missense	possibly damaging	0.95
R6481:D930020B18Rik	UTSW	10	121,497,053 (GRCm39)	critical splice donor site	probably null
R7070:D930020B18Rik	UTSW	10	121,477,879 (GRCm39)	missense	probably damaging	1.00
R7250:D930020B18Rik	UTSW	10	121,507,736 (GRCm39)	missense	probably damaging	1.00
R7365:D930020B18Rik	UTSW	10	121,503,716 (GRCm39)	splice site	probably null
R7408:D930020B18Rik	UTSW	10	121,525,739 (GRCm39)	missense	probably damaging	1.00
R7446:D930020B18Rik	UTSW	10	121,503,650 (GRCm39)	missense	possibly damaging	0.94
R7559:D930020B18Rik	UTSW	10	121,492,131 (GRCm39)	intron	probably benign
R8215:D930020B18Rik	UTSW	10	121,503,429 (GRCm39)	nonsense	probably null
R8410:D930020B18Rik	UTSW	10	121,521,435 (GRCm39)	splice site	probably benign
R8790:D930020B18Rik	UTSW	10	121,503,568 (GRCm39)	missense	possibly damaging	0.56
R8968:D930020B18Rik	UTSW	10	121,490,721 (GRCm39)	missense	probably damaging	0.98
R9063:D930020B18Rik	UTSW	10	121,497,002 (GRCm39)	missense	probably benign	0.00
R9710:D930020B18Rik	UTSW	10	121,503,563 (GRCm39)	missense	probably benign	0.14
R9778:D930020B18Rik	UTSW	10	121,503,565 (GRCm39)	missense	probably benign	0.02
X0021:D930020B18Rik	UTSW	10	121,477,790 (GRCm39)	missense	probably null	1.00
Z1176:D930020B18Rik	UTSW	10	121,503,521 (GRCm39)	missense	probably benign	0.01
Z1177:D930020B18Rik	UTSW	10	121,525,817 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTAGAGTGACATTGGCACT -3'
(R):5'- TGTTGTATATAAGAGCTACACAGAACA -3'

Sequencing Primer
(F):5'- TATAGTGGTACCTACCCAGTCAGG -3'
(R):5'- GGTGAGAACTTACCCTTCAAGGTATC -3'

Posted On

2022-03-25