Mutagenetix > Incidental Mutation

Incidental Mutation 'R7070:D930020B18Rik'

548844

Institutional Source

Beutler Lab

Gene Symbol

D930020B18Rik

Ensembl Gene

ENSMUSG00000047642

Gene Name

RIKEN cDNA D930020B18 gene

Synonyms

MMRRC Submission

045166-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121477493-121529820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121477879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 35 (V35M)

Ref Sequence

ENSEMBL: ENSMUSP00000118274 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120642
AA Change: V53M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: V53M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132744
AA Change: V35M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: V35M

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 damaging
Transcript: ENSMUST00000140802
AA Change: V53M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642
AA Change: V53M

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

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,930,232 (GRCm39)	Y156H	probably damaging	Het
Abca13	T	A	11: 9,240,701 (GRCm39)	F855I	probably benign	Het
Abca2	T	G	2: 25,333,007 (GRCm39)	F1569V	probably benign	Het
Adcy8	T	A	15: 64,792,404 (GRCm39)	N184I	probably damaging	Het
Akap3	T	C	6: 126,850,987 (GRCm39)	V835A	probably damaging	Het
Atg5	T	A	10: 44,162,150 (GRCm39)	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,152,879 (GRCm39)	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 61,017,232 (GRCm39)	H254R	probably damaging	Het
Capza3	C	T	6: 139,987,646 (GRCm39)	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,316,796 (GRCm39)	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,915 (GRCm39)	M585K	probably benign	Het
Chrnb3	A	T	8: 27,883,989 (GRCm39)	Y242F	probably damaging	Het
Cngb3	T	C	4: 19,425,593 (GRCm39)	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,008,278 (GRCm39)	D248G	probably benign	Het
Cntn1	C	T	15: 92,151,917 (GRCm39)	T452M	probably damaging	Het
Cygb	C	A	11: 116,544,851 (GRCm39)		probably benign	Het
Dcaf17	C	T	2: 70,918,857 (GRCm39)	T477M	probably benign	Het
Dpp3	A	T	19: 4,968,356 (GRCm39)	F239I	probably benign	Het
Dst	T	A	1: 34,314,383 (GRCm39)	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,762,685 (GRCm39)	I188F	probably damaging	Het
Galnt5	A	G	2: 57,888,621 (GRCm39)	M74V	probably benign	Het
Grin2a	T	C	16: 9,397,288 (GRCm39)	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,311,657 (GRCm39)	E223D	probably damaging	Het
H2-M5	C	A	17: 37,300,051 (GRCm39)	G41V	possibly damaging	Het
Hars2	C	T	18: 36,924,165 (GRCm39)	R501*	probably null	Het
Heatr4	A	G	12: 84,016,632 (GRCm39)	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,649,787 (GRCm39)	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,589,429 (GRCm39)	V17A	probably damaging	Het
Jak3	A	G	8: 72,137,255 (GRCm39)	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,690,393 (GRCm39)		probably null	Het
Kcnj15	C	G	16: 95,096,690 (GRCm39)	T104S	probably damaging	Het
Kndc1	A	G	7: 139,501,744 (GRCm39)	E927G	probably damaging	Het
Larp1b	G	T	3: 40,931,086 (GRCm39)	G275C	probably damaging	Het
Lyst	C	A	13: 13,932,029 (GRCm39)	H3552Q	probably benign	Het
Mast2	A	T	4: 116,168,052 (GRCm39)	I960N	probably benign	Het
Mcee	G	A	7: 64,050,078 (GRCm39)	V70I	possibly damaging	Het
Muc16	G	A	9: 18,557,219 (GRCm39)	Q3025*	probably null	Het
Nrg1	T	A	8: 32,339,465 (GRCm39)	T45S	probably damaging	Het
Nutm1	T	A	2: 112,079,806 (GRCm39)	H703L	probably benign	Het
Or5m10	G	A	2: 85,718,034 (GRCm39)	V297I	probably benign	Het
Or7a38	A	T	10: 78,753,102 (GRCm39)	I143L	probably benign	Het
Pbx1	A	C	1: 168,023,337 (GRCm39)	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phf1	A	G	17: 27,153,307 (GRCm39)	T42A	possibly damaging	Het
Pigm	T	A	1: 172,205,233 (GRCm39)	I323N	probably damaging	Het
Plcg2	G	A	8: 118,323,045 (GRCm39)	R700H	probably benign	Het
Ptx4	G	A	17: 25,341,971 (GRCm39)	A149T	probably benign	Het
Rab6a	A	G	7: 100,279,064 (GRCm39)	D68G	probably damaging	Het
Rcan3	C	T	4: 135,143,898 (GRCm39)	E185K	probably damaging	Het
Rnf14	A	G	18: 38,434,781 (GRCm39)	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,217,939 (GRCm39)	F192I	probably damaging	Het
Rps6ka1	T	C	4: 133,588,759 (GRCm39)	T285A	probably benign	Het
Rrp8	T	C	7: 105,384,083 (GRCm39)	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,836,299 (GRCm39)	K122E	probably damaging	Het
Senp1	T	C	15: 97,980,187 (GRCm39)	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,754,834 (GRCm39)	D519A	probably damaging	Het
Slfn14	T	G	11: 83,167,531 (GRCm39)	R661S	probably benign	Het
Snta1	T	C	2: 154,222,979 (GRCm39)	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,453,729 (GRCm39)		probably benign	Het
Spmap2l	G	T	5: 77,195,124 (GRCm39)		probably null	Het
Stk11ip	C	T	1: 75,504,259 (GRCm39)	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628 (GRCm38)	F76I	probably damaging	Het
Tns2	A	G	15: 102,012,968 (GRCm39)	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,941,912 (GRCm39)	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,136,363 (GRCm39)	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,129,224 (GRCm39)		probably null	Het
Vmn2r69	T	C	7: 85,060,688 (GRCm39)	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,924,313 (GRCm39)	D37E	probably damaging	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
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
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'- CTGGTTCCTGAAGCAAGGTC -3'
(R):5'- CACTGACAAGAGATGAAGTCCG -3'

Sequencing Primer
(F):5'- TGAAGCAAGGTCCGGCTC -3'
(R):5'- AGATGAAGTCCGGGGCG -3'

Posted On

2019-05-13