Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01010:1700030K09Rik'

53716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700030K09Rik

Ensembl Gene

ENSMUSG00000052794

Gene Name

RIKEN cDNA 1700030K09 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01010

Quality Score

Status

Chromosome

Chromosomal Location

73197724-73214385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73199059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 155 (S155R)

Ref Sequence

ENSEMBL: ENSMUSP00000113279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019876] [ENSMUST00000064853] [ENSMUST00000121902]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019876

SMART Domains

Protein: ENSMUSP00000019876
Gene: ENSMUSG00000019732

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	23	256	5.7e-40	PFAM
Pfam:Calreticulin	255	315	6.6e-7	PFAM
low complexity region	345	359	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064853
AA Change: S155R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: S155R

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121902
AA Change: S155R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: S155R

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

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
Acss3	G	T	10: 106,859,710 (GRCm39)		probably benign	Het
Ano4	G	A	10: 88,796,462 (GRCm39)	T680I	probably benign	Het
Drosha	C	T	15: 12,827,375 (GRCm39)		probably benign	Het
Ehd3	A	G	17: 74,134,484 (GRCm39)	D281G	probably damaging	Het
Exoc5	A	G	14: 49,275,212 (GRCm39)	L196P	probably damaging	Het
Gal3st1	T	C	11: 3,946,914 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,439,980 (GRCm39)	R4*	probably null	Het
Gm21738	T	A	14: 19,417,361 (GRCm38)	T56S	probably benign	Het
Gm3573	T	A	14: 42,009,523 (GRCm39)	I141L	probably benign	Het
Gpr6	A	G	10: 40,947,147 (GRCm39)	M145T	probably benign	Het
Kcns3	T	C	12: 11,142,427 (GRCm39)	M91V	probably benign	Het
Mtarc2	T	G	1: 184,551,513 (GRCm39)	I308L	probably benign	Het
Mto1	A	G	9: 78,368,925 (GRCm39)	K529R	probably benign	Het
Naip2	A	T	13: 100,291,446 (GRCm39)	V1164D	probably damaging	Het
Or2ag13	T	C	7: 106,473,460 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,288 (GRCm39)	I114N	probably damaging	Het
Plekha1	T	C	7: 130,503,984 (GRCm39)		probably benign	Het
Psg26	T	C	7: 18,212,255 (GRCm39)	S367G	possibly damaging	Het
Rps6kb1	T	C	11: 86,393,592 (GRCm39)	M513V	probably benign	Het
Slitrk3	C	T	3: 72,956,606 (GRCm39)	G722D	probably benign	Het
Stag1	A	G	9: 100,827,986 (GRCm39)	E1005G	probably benign	Het
Tgfbr2	A	T	9: 115,959,048 (GRCm39)	L122Q	possibly damaging	Het
Traf2	G	A	2: 25,410,450 (GRCm39)	R400*	probably null	Het
Trim33	C	T	3: 103,254,031 (GRCm39)	Q153*	probably null	Het
Zmynd15	T	C	11: 70,356,742 (GRCm39)	Y551H	probably damaging	Het
Znrd2	A	G	19: 5,781,293 (GRCm39)	S78P	probably damaging	Het

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	73,209,193 (GRCm39)	missense	probably damaging	1.00
IGL01449:1700030K09Rik	APN	8	73,198,693 (GRCm39)	missense	probably benign	0.10
IGL01714:1700030K09Rik	APN	8	73,209,413 (GRCm39)	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	73,199,043 (GRCm39)	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	73,198,968 (GRCm39)	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	73,199,244 (GRCm39)	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	73,209,216 (GRCm39)	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	73,205,230 (GRCm39)	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	73,203,477 (GRCm39)	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	73,208,959 (GRCm39)	missense	probably benign	0.01
R2154:1700030K09Rik	UTSW	8	73,208,959 (GRCm39)	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	73,209,247 (GRCm39)	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	73,199,013 (GRCm39)	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	73,199,008 (GRCm39)	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	73,208,962 (GRCm39)	missense	probably benign	0.02
R5857:1700030K09Rik	UTSW	8	73,203,369 (GRCm39)	missense	probably benign	0.04
R6256:1700030K09Rik	UTSW	8	73,205,272 (GRCm39)	missense	probably damaging	1.00
R7129:1700030K09Rik	UTSW	8	73,209,199 (GRCm39)	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	73,203,303 (GRCm39)	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	73,198,755 (GRCm39)	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	73,199,219 (GRCm39)	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	73,211,888 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-06-28