Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01477:9130011E15Rik'

88485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9130011E15Rik

Ensembl Gene

ENSMUSG00000039901

Gene Name

RIKEN cDNA 9130011E15 gene

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01477

Quality Score

Status

Chromosome

Chromosomal Location

45818144-45998488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45978604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 33 (F33S)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045396]

AlphaFold

Q6PD19

Predicted Effect

probably damaging
Transcript: ENSMUST00000045396
AA Change: F33S

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

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: F33S

Domain	Start	End	E-Value	Type
low complexity region	155	167	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
DUF1741	435	671	5.65e-139	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,437,756 (GRCm38)	K547N	probably damaging	Het
Aven	T	C	2: 112,629,932 (GRCm38)	S132P	probably benign	Het
Cadps2	G	A	6: 23,263,673 (GRCm38)	T1233M	probably damaging	Het
Cdh16	T	C	8: 104,618,508 (GRCm38)	E383G	probably damaging	Het
Cxxc1	A	G	18: 74,219,914 (GRCm38)	K432E	possibly damaging	Het
Eprs	G	T	1: 185,411,375 (GRCm38)		probably benign	Het
Etv4	T	C	11: 101,777,128 (GRCm38)	D74G	possibly damaging	Het
Glb1l	A	T	1: 75,208,706 (GRCm38)	I120N	probably damaging	Het
Grpel1	G	A	5: 36,470,642 (GRCm38)	R89Q	probably damaging	Het
Ifi44	C	T	3: 151,745,998 (GRCm38)		probably benign	Het
Ikzf3	T	C	11: 98,488,857 (GRCm38)	H195R	probably damaging	Het
Mug2	A	G	6: 122,081,684 (GRCm38)		probably benign	Het
Olfr344	T	A	2: 36,568,742 (GRCm38)	L48H	probably damaging	Het
Olfr895	T	A	9: 38,269,319 (GRCm38)	S269T	possibly damaging	Het
Pcnx	A	T	12: 81,973,241 (GRCm38)	K1346I	probably damaging	Het
Pcnx2	C	T	8: 125,785,305 (GRCm38)	V1421I	probably damaging	Het
Pnpla8	A	G	12: 44,283,658 (GRCm38)	D331G	probably damaging	Het
Ppp1r3a	A	T	6: 14,718,346 (GRCm38)	N856K	probably damaging	Het
Ptk7	T	C	17: 46,576,880 (GRCm38)	D542G	possibly damaging	Het
Slc4a2	A	G	5: 24,430,156 (GRCm38)		probably benign	Het
Smarce1	C	T	11: 99,210,187 (GRCm38)	G373E	possibly damaging	Het
Speg	A	G	1: 75,391,897 (GRCm38)	N697S	probably damaging	Het
Supt5	T	C	7: 28,317,264 (GRCm38)	H731R	possibly damaging	Het
Tmod2	T	C	9: 75,595,001 (GRCm38)	H68R	probably benign	Het
Vmn2r68	A	C	7: 85,233,483 (GRCm38)	C354G	probably damaging	Het
Zfp277	A	T	12: 40,320,676 (GRCm38)	Y425N	probably benign	Het

Other mutations in 9130011E15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:9130011E15Rik	APN	19	45,940,488 (GRCm38)	missense	probably benign	0.19
IGL00788:9130011E15Rik	APN	19	45,932,350 (GRCm38)	critical splice donor site	probably null
IGL01356:9130011E15Rik	APN	19	45,966,303 (GRCm38)	missense	possibly damaging	0.94
IGL01660:9130011E15Rik	APN	19	45,940,476 (GRCm38)	missense	probably damaging	1.00
IGL02193:9130011E15Rik	APN	19	45,972,884 (GRCm38)	missense	probably benign	0.02
IGL02863:9130011E15Rik	APN	19	45,958,411 (GRCm38)	missense	probably damaging	1.00
IGL03108:9130011E15Rik	APN	19	45,820,353 (GRCm38)	missense	probably damaging	0.99
R0035:9130011E15Rik	UTSW	19	45,891,240 (GRCm38)	missense	probably damaging	1.00
R0791:9130011E15Rik	UTSW	19	45,933,868 (GRCm38)	splice site	probably null
R0792:9130011E15Rik	UTSW	19	45,933,868 (GRCm38)	splice site	probably null
R1487:9130011E15Rik	UTSW	19	45,940,443 (GRCm38)	critical splice donor site	probably null
R1843:9130011E15Rik	UTSW	19	45,975,252 (GRCm38)	missense	probably benign	0.17
R2061:9130011E15Rik	UTSW	19	45,978,667 (GRCm38)	missense	probably damaging	1.00
R2070:9130011E15Rik	UTSW	19	45,891,285 (GRCm38)	missense	probably damaging	1.00
R2072:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2073:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2074:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2091:9130011E15Rik	UTSW	19	45,952,680 (GRCm38)	missense	probably damaging	1.00
R2263:9130011E15Rik	UTSW	19	45,932,349 (GRCm38)	critical splice donor site	probably null
R2863:9130011E15Rik	UTSW	19	45,885,957 (GRCm38)	missense	probably damaging	1.00
R3236:9130011E15Rik	UTSW	19	45,975,283 (GRCm38)	splice site	probably benign
R3796:9130011E15Rik	UTSW	19	45,921,610 (GRCm38)	splice site	probably benign
R4044:9130011E15Rik	UTSW	19	45,820,324 (GRCm38)	missense	probably damaging	1.00
R4716:9130011E15Rik	UTSW	19	45,960,342 (GRCm38)	missense	probably damaging	1.00
R4974:9130011E15Rik	UTSW	19	45,820,287 (GRCm38)	missense	probably damaging	1.00
R4983:9130011E15Rik	UTSW	19	45,950,707 (GRCm38)	missense	probably benign
R5063:9130011E15Rik	UTSW	19	45,885,955 (GRCm38)	missense	possibly damaging	0.95
R5313:9130011E15Rik	UTSW	19	45,818,975 (GRCm38)	missense	probably damaging	1.00
R5782:9130011E15Rik	UTSW	19	45,886,027 (GRCm38)	missense	probably benign	0.08
R5985:9130011E15Rik	UTSW	19	45,820,324 (GRCm38)	missense	probably damaging	1.00
R6220:9130011E15Rik	UTSW	19	45,846,115 (GRCm38)	missense	possibly damaging	0.79
R6379:9130011E15Rik	UTSW	19	45,921,697 (GRCm38)	missense	possibly damaging	0.46
R6674:9130011E15Rik	UTSW	19	45,974,998 (GRCm38)	missense	probably benign	0.06
R6842:9130011E15Rik	UTSW	19	45,818,977 (GRCm38)	missense	probably benign	0.05
R6890:9130011E15Rik	UTSW	19	45,960,357 (GRCm38)	missense	probably damaging	1.00
R7034:9130011E15Rik	UTSW	19	45,965,249 (GRCm38)	missense	probably damaging	0.98
R7036:9130011E15Rik	UTSW	19	45,965,249 (GRCm38)	missense	probably damaging	0.98
R7305:9130011E15Rik	UTSW	19	45,892,121 (GRCm38)	missense	probably benign	0.35
R7411:9130011E15Rik	UTSW	19	45,965,435 (GRCm38)	missense	probably benign	0.00
R7762:9130011E15Rik	UTSW	19	45,940,443 (GRCm38)	critical splice donor site	probably null
R8021:9130011E15Rik	UTSW	19	45,956,741 (GRCm38)	critical splice acceptor site	probably null
R8366:9130011E15Rik	UTSW	19	45,932,354 (GRCm38)	missense	probably damaging	1.00
R9336:9130011E15Rik	UTSW	19	45,956,681 (GRCm38)	missense	probably damaging	1.00
X0060:9130011E15Rik	UTSW	19	45,932,393 (GRCm38)	missense	possibly damaging	0.95
Z1088:9130011E15Rik	UTSW	19	45,818,905 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-11-18