Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03256:1700030K09Rik'

414664

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 #

IGL03256

Quality Score

Status

Chromosome

Chromosomal Location

73197724-73214385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73199043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 150 (T150I)

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: T150I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: T150I

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 benign
Transcript: ENSMUST00000121902
AA Change: T150I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: T150I

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,291,280 (GRCm39)	N333D	probably benign	Het
Aifm3	G	A	16: 17,324,174 (GRCm39)	R578Q	probably benign	Het
Arid2	C	A	15: 96,268,643 (GRCm39)	Q919K	probably benign	Het
Atp6v1a	T	C	16: 43,931,451 (GRCm39)		probably benign	Het
Bicd1	A	T	6: 149,415,083 (GRCm39)	T599S	probably benign	Het
Bltp1	T	C	3: 36,960,832 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,409,299 (GRCm39)	R601W	probably damaging	Het
Clca3a2	A	C	3: 144,792,153 (GRCm39)	S369R	possibly damaging	Het
Cyfip1	T	G	7: 55,557,182 (GRCm39)	V795G	possibly damaging	Het
Ddb1	A	G	19: 10,599,225 (GRCm39)	T544A	probably benign	Het
Defb43	T	C	14: 63,255,329 (GRCm39)	I54T	probably damaging	Het
Dera	A	G	6: 137,756,643 (GRCm39)	M89V	probably benign	Het
Fam227b	T	A	2: 125,830,923 (GRCm39)	K427I	probably damaging	Het
Frk	A	G	10: 34,483,838 (GRCm39)	I400V	probably benign	Het
Gk5	T	A	9: 96,011,106 (GRCm39)	L72H	probably damaging	Het
Gprc6a	T	A	10: 51,504,445 (GRCm39)	Y133F	possibly damaging	Het
Hecw1	A	G	13: 14,455,069 (GRCm39)	L662P	probably damaging	Het
Hecw1	G	T	13: 14,455,070 (GRCm39)	L662M	probably benign	Het
Il12b	T	A	11: 44,298,757 (GRCm39)	S71T	probably benign	Het
Kdm2a	A	T	19: 4,395,538 (GRCm39)		probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Magel2	C	A	7: 62,030,162 (GRCm39)	T1022K	unknown	Het
Mycbp2	C	A	14: 103,426,025 (GRCm39)	V2367F	possibly damaging	Het
Nap1l3	C	T	X: 121,305,905 (GRCm39)	G271D	probably benign	Het
Nars2	T	A	7: 96,689,117 (GRCm39)	D346E	possibly damaging	Het
Nek11	T	A	9: 105,121,613 (GRCm39)	E435D	probably damaging	Het
Nfam1	C	T	15: 82,894,611 (GRCm39)	G205R	probably benign	Het
Or10aa1	T	C	1: 173,869,774 (GRCm39)	L86P	probably damaging	Het
Or1e35	A	T	11: 73,797,522 (GRCm39)	N265K	probably benign	Het
Or5b118	T	A	19: 13,448,631 (GRCm39)	M99K	probably damaging	Het
Otud3	G	A	4: 138,636,928 (GRCm39)	R78W	probably damaging	Het
Oxct2a	C	T	4: 123,216,758 (GRCm39)	A208T	probably damaging	Het
Pcdh11x	A	T	X: 119,310,607 (GRCm39)	E683D	probably benign	Het
Phtf2	C	A	5: 21,008,250 (GRCm39)	V144L	probably damaging	Het
Pkn2	T	C	3: 142,509,311 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,942,445 (GRCm39)	D459V	possibly damaging	Het
Ralgapa2	A	G	2: 146,302,632 (GRCm39)		probably null	Het
Rapgef6	A	C	11: 54,548,255 (GRCm39)	Q813P	probably damaging	Het
Rsf1	A	T	7: 97,328,211 (GRCm39)	D1071V	possibly damaging	Het
Sctr	T	C	1: 119,959,289 (GRCm39)		probably benign	Het
Serpini1	A	G	3: 75,526,481 (GRCm39)	I244M	probably benign	Het
Tada2a	C	A	11: 83,978,018 (GRCm39)		probably benign	Het
Tada3	A	T	6: 113,352,092 (GRCm39)	H112Q	possibly damaging	Het
Tnxb	T	A	17: 34,907,694 (GRCm39)	L1246Q	probably damaging	Het
Txndc16	T	C	14: 45,389,353 (GRCm39)	N449S	probably damaging	Het
Usp34	T	A	11: 23,370,090 (GRCm39)	Y1771*	probably null	Het
Vav2	A	T	2: 27,161,912 (GRCm39)		probably null	Het
Virma	T	C	4: 11,542,207 (GRCm39)		probably benign	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Vnn3	A	T	10: 23,727,698 (GRCm39)		probably benign	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
IGL01010:1700030K09Rik	APN	8	73,199,059 (GRCm39)	missense	probably damaging	0.98
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
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

2016-08-02