Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:D930020B18Rik'

386275

Institutional Source

Beutler Lab

Gene Symbol

D930020B18Rik

Ensembl Gene

ENSMUSG00000047642

Gene Name

RIKEN cDNA D930020B18 gene

Synonyms

MMRRC Submission

042586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121477493-121529820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121490667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 89 (P89L)

Ref Sequence

ENSEMBL: ENSMUSP00000121976 (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: P89L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: P89L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132744
AA Change: P71L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: P71L

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: P89L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642
AA Change: P89L

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

0.2940

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,948,203 (GRCm39)	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,151,101 (GRCm39)	E27V	probably damaging	Het
Acsm4	T	A	7: 119,310,640 (GRCm39)	I509N	probably benign	Het
Asb18	T	C	1: 89,880,585 (GRCm39)	M143V	probably benign	Het
Birc6	A	G	17: 74,996,251 (GRCm39)	D4475G	probably benign	Het
Bsn	A	T	9: 107,992,747 (GRCm39)	S1002T	probably damaging	Het
Bub3	T	C	7: 131,162,535 (GRCm39)	S33P	probably damaging	Het
Ccna1	T	A	3: 54,957,311 (GRCm39)	R35S	probably damaging	Het
Cdc23	T	A	18: 34,779,972 (GRCm39)	M119L	probably benign	Het
Ces1a	A	G	8: 93,771,650 (GRCm39)	V49A	probably benign	Het
Chi3l1	A	T	1: 134,116,364 (GRCm39)	E282D	probably benign	Het
Crocc	G	A	4: 140,773,977 (GRCm39)	A220V	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
Dennd5a	A	G	7: 109,493,919 (GRCm39)	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,357,064 (GRCm39)	K200R	unknown	Het
Ect2l	A	G	10: 18,048,477 (GRCm39)	F156S	probably benign	Het
Egf	T	C	3: 129,505,179 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Elmo3	T	A	8: 106,036,133 (GRCm39)	Y607*	probably null	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Ephb2	A	G	4: 136,388,150 (GRCm39)	V651A	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gcn1	T	C	5: 115,737,225 (GRCm39)	V1321A	probably benign	Het
Gimd1	A	T	3: 132,340,718 (GRCm39)	Y78F	probably benign	Het
Glmn	T	G	5: 107,705,167 (GRCm39)	D483A	probably damaging	Het
Gsr	C	T	8: 34,183,941 (GRCm39)	T401I	probably damaging	Het
Htr3b	G	A	9: 48,870,518 (GRCm39)	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,745,777 (GRCm39)	V42A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4b	A	T	8: 82,759,837 (GRCm39)	R627S	probably damaging	Het
Kif13a	C	T	13: 46,930,639 (GRCm39)	V142M	probably damaging	Het
Lims1	A	C	10: 58,246,063 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,202,475 (GRCm39)	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,835,748 (GRCm39)	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,386,343 (GRCm39)	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,096,743 (GRCm39)	D523E	probably benign	Het
Mphosph9	T	C	5: 124,442,253 (GRCm39)	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,649,834 (GRCm39)	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,190,792 (GRCm39)	V781A	possibly damaging	Het
Ncoa3	T	A	2: 165,911,859 (GRCm39)	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,558,966 (GRCm39)	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,256,811 (GRCm39)	V54A	probably benign	Het
Or1e32	G	A	11: 73,705,146 (GRCm39)	T254I	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Parp14	A	T	16: 35,661,512 (GRCm39)	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,423,484 (GRCm39)	V176A	probably damaging	Het
Pibf1	T	A	14: 99,388,103 (GRCm39)	N416K	probably damaging	Het
Pip4p1	A	G	14: 51,166,690 (GRCm39)	V179A	probably damaging	Het
Polb	A	T	8: 23,135,087 (GRCm39)	V115E	probably damaging	Het
Polq	T	A	16: 36,881,524 (GRCm39)	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,876,508 (GRCm39)	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,004,033 (GRCm39)	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,819,669 (GRCm39)		probably null	Het
Rgs1	C	A	1: 144,122,060 (GRCm39)	K77N	probably damaging	Het
Rnf112	T	A	11: 61,343,537 (GRCm39)	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,770,325 (GRCm39)	E117*	probably null	Het
Robo1	G	A	16: 72,776,756 (GRCm39)	V743I	probably damaging	Het
Scarf1	T	C	11: 75,413,056 (GRCm39)	L434P	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sgsm1	A	T	5: 113,430,486 (GRCm39)	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508 (GRCm39)	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,310,579 (GRCm39)	K403E	probably damaging	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Sptlc3	G	A	2: 139,437,923 (GRCm39)	V406I	probably benign	Het
Tgds	A	C	14: 118,355,175 (GRCm39)	Y197D	probably damaging	Het
Tll1	G	T	8: 64,546,978 (GRCm39)	R323S	probably damaging	Het
Trim14	A	G	4: 46,507,110 (GRCm39)	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,199,112 (GRCm39)		noncoding transcript	Het
Ube3a	T	A	7: 58,934,568 (GRCm39)	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 109,145,592 (GRCm39)	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,510,765 (GRCm39)	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,003,070 (GRCm39)	Q160L	probably benign	Het
Vmn2r75	A	C	7: 85,815,375 (GRCm39)		probably null	Het
Vps8	A	G	16: 21,280,158 (GRCm39)	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,703,300 (GRCm39)	S32P	probably benign	Het
Zfp366	T	C	13: 99,366,003 (GRCm39)	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,605,599 (GRCm39)	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,686,983 (GRCm39)	N784I	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	121,490,666 (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
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'- AAAACGCCATGGGTGCTTC -3'
(R):5'- AACGCTTATGCAACGTCCCC -3'

Sequencing Primer
(F):5'- CTTACAGGTTCAGAGATTCAGGC -3'
(R):5'- GCTTATGCAACGTCCCCCATAC -3'

Posted On

2016-05-10