Mutagenetix > Incidental Mutation

Incidental Mutation 'R7446:D930020B18Rik'

577306

Institutional Source

Beutler Lab

Gene Symbol

D930020B18Rik

Ensembl Gene

ENSMUSG00000047642

Gene Name

RIKEN cDNA D930020B18 gene

Synonyms

MMRRC Submission

045522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121477493-121529820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121503650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 275 (I275T)

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: I275T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: I275T

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: I72T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118939
Gene: ENSMUSG00000047642
AA Change: I72T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,950,441 (GRCm39)	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,738,412 (GRCm39)	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,055,837 (GRCm39)	R222W	probably damaging	Het
C2	G	A	17: 35,094,986 (GRCm39)	R250C	probably damaging	Het
Cdk15	A	G	1: 59,328,854 (GRCm39)	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,791,874 (GRCm39)	T2576A	possibly damaging	Het
Cfap61	C	T	2: 145,995,758 (GRCm39)	R1108C	probably benign	Het
Clca3a1	A	G	3: 144,733,188 (GRCm39)	S107P	possibly damaging	Het
Cplane1	A	G	15: 8,261,564 (GRCm39)	D2460G	probably damaging	Het
Cpsf1	A	G	15: 76,485,950 (GRCm39)	S407P	probably benign	Het
Crisp4	T	C	1: 18,192,962 (GRCm39)	T252A	probably damaging	Het
Ctbs	A	G	3: 146,164,573 (GRCm39)	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,186,874 (GRCm39)	T537A	probably benign	Het
Dcaf7	T	C	11: 105,944,561 (GRCm39)	V248A	probably benign	Het
Def8	T	C	8: 124,181,061 (GRCm39)	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,706,991 (GRCm39)	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,936,231 (GRCm39)	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720 (GRCm39)	S3307R	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Erf	A	T	7: 24,945,556 (GRCm39)	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,740,079 (GRCm39)	H47L	unknown	Het
Gm5591	C	T	7: 38,218,933 (GRCm39)	E647K	probably benign	Het
Gng12	TGTCCAGCAAG	TG	6: 66,992,736 (GRCm39)		probably benign	Het
Guk1	T	C	11: 59,076,850 (GRCm39)	T78A	probably benign	Het
Hephl1	T	C	9: 15,009,347 (GRCm39)	T82A	probably damaging	Het
Htra4	A	G	8: 25,527,181 (GRCm39)	S205P	probably benign	Het
Jakmip2	T	C	18: 43,710,390 (GRCm39)	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,137,610 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Lrp2	C	A	2: 69,262,557 (GRCm39)	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,290,018 (GRCm39)	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,721,109 (GRCm39)	K646E	probably benign	Het
Mgam	T	C	6: 40,723,266 (GRCm39)	L457P	probably damaging	Het
Mink1	T	A	11: 70,500,455 (GRCm39)	S802T	probably benign	Het
Mrgprb5	C	T	7: 47,818,252 (GRCm39)	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,336,472 (GRCm39)	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,661,201 (GRCm39)	K51R	probably benign	Het
Myo1b	A	G	1: 51,803,065 (GRCm39)	F872S	possibly damaging	Het
Nbas	A	T	12: 13,443,499 (GRCm39)	T1185S	probably benign	Het
Oas1d	A	T	5: 121,058,054 (GRCm39)	I333L	probably benign	Het
Or10ak9	A	T	4: 118,726,019 (GRCm39)	I14F	possibly damaging	Het
Or4d10	A	G	19: 12,051,061 (GRCm39)	*312Q	probably null	Het
P2ry12	A	G	3: 59,124,632 (GRCm39)	*348Q	probably null	Het
Pik3cb	A	T	9: 98,928,711 (GRCm39)	V848E	probably damaging	Het
Plcz1	A	C	6: 139,959,312 (GRCm39)	S282A	possibly damaging	Het
Prss46	A	G	9: 110,679,189 (GRCm39)	D130G	probably damaging	Het
Pygl	T	C	12: 70,243,784 (GRCm39)	I644V	probably benign	Het
Ralgds	T	A	2: 28,435,901 (GRCm39)	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,712,767 (GRCm39)	D255G	probably benign	Het
Scaf4	T	C	16: 90,055,658 (GRCm39)	D133G	unknown	Het
Sdk1	G	A	5: 142,130,731 (GRCm39)	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,467,573 (GRCm39)	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,422,902 (GRCm39)	L207H	probably damaging	Het
Speer2	A	T	16: 69,654,965 (GRCm39)	S167T	possibly damaging	Het
Spock1	A	G	13: 57,583,898 (GRCm39)	I339T	unknown	Het
Srsf6	T	A	2: 162,776,636 (GRCm39)	S327T	unknown	Het
Syne1	T	A	10: 5,172,266 (GRCm39)	E5058D	probably benign	Het
Tcf19	A	G	17: 35,825,428 (GRCm39)	V243A	probably benign	Het
Tspan15	T	C	10: 62,029,734 (GRCm39)	D122G	probably benign	Het
Ttc17	C	T	2: 94,205,495 (GRCm39)	V284M	probably damaging	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,141,082 (GRCm39)	C360*	probably null	Het
Vmn1r181	A	C	7: 23,684,356 (GRCm39)	S274R	probably benign	Het
Xrcc5	T	C	1: 72,433,132 (GRCm39)		probably null	Het
Zfp277	C	T	12: 40,378,729 (GRCm39)	R376H	probably damaging	Het
Zfp629	T	C	7: 127,210,201 (GRCm39)	E536G	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
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'- CAGTCTATGGCAGCTACTGAC -3'
(R):5'- ACGTTCAGTTCCCAAAATGGAG -3'

Sequencing Primer
(F):5'- AGCTACTGACATGCCAGTCTG -3'
(R):5'- TTCAGTTCCCAAAATGGAGAGAGAG -3'

Posted On

2019-10-07