Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02532:2200002D01Rik'

297343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2200002D01Rik

Ensembl Gene

ENSMUSG00000030587

Gene Name

RIKEN cDNA 2200002D01 gene

Synonyms

H2RSP, HAI-2 related small protein

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

28946946-28947892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28947645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 15 (K15E)

Ref Sequence

ENSEMBL: ENSMUSP00000032808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032808] [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]

AlphaFold

Q9D809

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032808
AA Change: K15E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032808
Gene: ENSMUSG00000030587
AA Change: K15E

Domain	Start	End	E-Value	Type
Pfam:IMUP	1	114	1.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032809

SMART Domains

Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	45	65	N/A	INTRINSIC
Pfam:YIF1	72	304	5.7e-86	PFAM
Pfam:Yip1	110	282	7.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108237

SMART Domains

Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	37	57	N/A	INTRINSIC
Pfam:YIF1	64	176	3.9e-48	PFAM
Pfam:YIF1	169	244	2.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108238

SMART Domains

Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	42	62	N/A	INTRINSIC
Pfam:YIF1	66	303	5.4e-107	PFAM
Pfam:Yip1	107	279	7.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138128

SMART Domains

Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	42	62	N/A	INTRINSIC
low complexity region	100	110	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151339

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,325,148 (GRCm39)	T381A	probably benign	Het
Adcy1	T	A	11: 7,094,737 (GRCm39)	N554K	probably benign	Het
Adcy5	A	G	16: 35,092,453 (GRCm39)	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,664,021 (GRCm39)	S754*	probably null	Het
Arhgef28	T	A	13: 98,166,391 (GRCm39)	D319V	probably damaging	Het
Brca2	A	G	5: 150,474,327 (GRCm39)	D2410G	probably damaging	Het
Carmil2	T	A	8: 106,419,063 (GRCm39)		probably null	Het
Catip	A	G	1: 74,403,775 (GRCm39)	N189S	probably damaging	Het
Cd177	T	C	7: 24,444,674 (GRCm39)	K636E	probably benign	Het
Cep290	A	G	10: 100,380,927 (GRCm39)	T145A	probably benign	Het
Cthrc1	T	C	15: 38,940,560 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fas	C	A	19: 34,293,999 (GRCm39)	T118N	probably damaging	Het
Fgd3	G	A	13: 49,439,237 (GRCm39)	A253V	probably damaging	Het
Fig4	A	G	10: 41,161,277 (GRCm39)		probably benign	Het
Fubp3	T	C	2: 31,490,571 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,614,306 (GRCm39)	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,604,278 (GRCm39)	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,463,081 (GRCm39)		probably benign	Het
Ighv6-5	T	A	12: 114,380,424 (GRCm39)	D50V	probably benign	Het
Inpp5k	T	C	11: 75,524,010 (GRCm39)		probably benign	Het
Kalrn	T	C	16: 34,181,216 (GRCm39)	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,103,517 (GRCm39)	T389A	probably benign	Het
Klhl6	C	A	16: 19,775,832 (GRCm39)	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,286,314 (GRCm39)		probably benign	Het
Krt13	A	T	11: 100,010,195 (GRCm39)	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171 (GRCm39)	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,577,788 (GRCm39)	S297P	probably benign	Het
Ndufs1	G	A	1: 63,209,298 (GRCm39)	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,109,398 (GRCm39)	S115T	possibly damaging	Het
Nup50l	A	C	6: 96,141,771 (GRCm39)	S424R	probably damaging	Het
Pfpl	A	T	19: 12,406,209 (GRCm39)	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Psme1	T	A	14: 55,818,595 (GRCm39)	Y223*	probably null	Het
R3hdm1	T	C	1: 128,124,836 (GRCm39)		probably null	Het
Rnf103	A	G	6: 71,486,809 (GRCm39)	D480G	probably benign	Het
Rnf103	T	G	6: 71,486,636 (GRCm39)	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,523,365 (GRCm39)	V213A	probably damaging	Het
Sort1	G	T	3: 108,233,036 (GRCm39)	K203N	probably benign	Het
Sugp1	A	T	8: 70,512,469 (GRCm39)	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,150,183 (GRCm39)	R176K	probably benign	Het
Usp34	T	A	11: 23,320,291 (GRCm39)	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,934,135 (GRCm39)	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,219,639 (GRCm39)	T303K	probably benign	Het

Other mutations in 2200002D01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01724:2200002D01Rik	APN	7	28,947,321 (GRCm39)	critical splice donor site	probably null
R4362:2200002D01Rik	UTSW	7	28,947,687 (GRCm39)	unclassified	probably benign
R8986:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9364:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9365:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9367:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9368:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9369:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9371:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9372:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9373:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9381:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9448:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9449:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9450:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9495:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9498:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9513:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9514:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9515:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9551:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
R9552:2200002D01Rik	UTSW	7	28,947,048 (GRCm39)	unclassified	probably benign
Z1186:2200002D01Rik	UTSW	7	28,947,029 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16