Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:D930020B18Rik'

670879

Institutional Source

Beutler Lab

Gene Symbol

D930020B18Rik

Ensembl Gene

ENSMUSG00000047642

Gene Name

RIKEN cDNA D930020B18 gene

Synonyms

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121477493-121529820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121503568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 248 (G248S)

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: G248S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: G248S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132744

SMART Domains

Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642

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

possibly damaging
Transcript: ENSMUST00000142501
AA Change: G45S

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118939
Gene: ENSMUSG00000047642
AA Change: G45S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (GRCm39)		probably benign	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
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
R9296:D930020B18Rik	UTSW	10	121,497,011 (GRCm39)	missense	possibly damaging	0.58
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'- GCAGCACTCCATTCAAGGAC -3'
(R):5'- ACACGAAGGTCAAGGTCAC -3'

Sequencing Primer
(F):5'- TCAAGGAACTGTCCCCTGCAG -3'
(R):5'- GAAGGTCAAGGTCACTTACTATAATG -3'

Posted On

2021-04-30