Mutagenetix > Incidental Mutation

Incidental Mutation 'R1384:A930033H14Rik'

163173

Institutional Source

Beutler Lab

Gene Symbol

A930033H14Rik

Ensembl Gene

ENSMUSG00000090622

Gene Name

RIKEN cDNA A930033H14 gene

Synonyms

MMRRC Submission

039446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69045592-69048928 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 69048191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000164212] [ENSMUST00000167286] [ENSMUST00000170048] [ENSMUST00000167384] [ENSMUST00000168117]

AlphaFold

G5E8X6

Predicted Effect

probably benign
Transcript: ENSMUST00000020101

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067908

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163497

SMART Domains

Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	96	1.8e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164034

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164212

SMART Domains

Protein: ENSMUSP00000128356
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	94	1.8e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164876

Predicted Effect

probably benign
Transcript: ENSMUST00000167286

SMART Domains

Protein: ENSMUSP00000131313
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	93	1.7e-5	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000170048
AA Change: F93L

SMART Domains

Protein: ENSMUSP00000126322
Gene: ENSMUSG00000090622
AA Change: F93L

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167384

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
PDB:3RYT\|C	10	97	8e-6	PDB
SCOP:d1ky3a_	15	150	8e-16	SMART
Blast:RHO	17	99	5e-50	BLAST
low complexity region	163	184	N/A	INTRINSIC
BTB	204	394	6.29e-13	SMART
BTB	422	520	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168117

SMART Domains

Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	97	1.9e-6	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,837,451 (GRCm39)		noncoding transcript	Het
Abcf3	G	A	16: 20,378,053 (GRCm39)	G522R	probably damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Alg10b	A	G	15: 90,111,785 (GRCm39)	K210E	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
C9	G	A	15: 6,488,415 (GRCm39)	V90I	probably benign	Het
Cacna1s	A	G	1: 136,022,709 (GRCm39)	I634V	probably benign	Het
Catip	A	G	1: 74,403,522 (GRCm39)	D153G	probably benign	Het
Cpt1c	G	A	7: 44,610,348 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 44,002,102 (GRCm39)	S296P	probably damaging	Het
Cyp2d41-ps	G	A	15: 82,663,718 (GRCm39)		noncoding transcript	Het
Edc4	T	A	8: 106,619,014 (GRCm39)	I1327N	probably damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Filip1l	A	G	16: 57,391,652 (GRCm39)	K509E	possibly damaging	Het
Golga4	A	G	9: 118,394,719 (GRCm39)	E96G	probably damaging	Het
Grid2ip	T	G	5: 143,371,851 (GRCm39)		probably null	Het
Gucy1a2	A	C	9: 3,759,620 (GRCm39)	E475D	probably damaging	Het
Hipk1	A	G	3: 103,666,090 (GRCm39)		probably benign	Het
Ica1	G	A	6: 8,742,262 (GRCm39)	Q124*	probably null	Het
Igsf3	T	C	3: 101,358,612 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,409,956 (GRCm39)	E462G	probably benign	Het
Men1	T	C	19: 6,389,921 (GRCm39)	S464P	probably benign	Het
Mrgpra2b	T	A	7: 47,113,742 (GRCm39)	E330V	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Nckap1	A	G	2: 80,364,014 (GRCm39)	M492T	possibly damaging	Het
Nhsl1	A	T	10: 18,284,261 (GRCm39)	K67N	probably null	Het
Nostrin	A	G	2: 69,019,406 (GRCm39)	R484G	probably benign	Het
Or8g22	T	A	9: 38,958,200 (GRCm39)	I172F	possibly damaging	Het
Otog	T	A	7: 45,923,119 (GRCm39)		probably benign	Het
P2rx5	A	G	11: 73,058,716 (GRCm39)	Y300C	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pi4ka	A	G	16: 17,115,401 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,237,082 (GRCm39)	S266P	probably benign	Het
Pole	G	A	5: 110,471,530 (GRCm39)	V1425M	possibly damaging	Het
Prss43	A	G	9: 110,656,510 (GRCm39)	I66V	probably benign	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Slc45a2	A	G	15: 11,025,832 (GRCm39)	Y394C	probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Strip1	T	C	3: 107,534,155 (GRCm39)	S160G	probably benign	Het
Tbx2	A	G	11: 85,724,318 (GRCm39)	K129R	probably benign	Het
Tfr2	T	C	5: 137,585,082 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,352,645 (GRCm39)	S17P	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tspear	T	C	10: 77,702,166 (GRCm39)	F200L	probably benign	Het
Tspyl5	T	A	15: 33,687,526 (GRCm39)	R140W	possibly damaging	Het
Ttn	T	C	2: 76,606,002 (GRCm39)	D18236G	probably damaging	Het
Upf2	G	A	2: 5,965,800 (GRCm39)	R140Q	unknown	Het
Vps4a	T	A	8: 107,763,276 (GRCm39)	I10N	possibly damaging	Het

Other mutations in A930033H14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R4818:A930033H14Rik	UTSW	10	69,048,190 (GRCm39)	unclassified	probably benign
R5241:A930033H14Rik	UTSW	10	69,048,581 (GRCm39)	critical splice donor site	probably null
R9731:A930033H14Rik	UTSW	10	69,048,679 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGAGTGAGCGGATTACACAGCCC -3'
(R):5'- GCTTTTGTTTCAAAACCGAGCCCAG -3'

Sequencing Primer
(F):5'- CCCAGTCTAACAGGCAGTTGAG -3'
(R):5'- GGAGCTGAAACTGATTTCGG -3'

Posted On

2014-03-17