Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:1700030K09Rik'

84567

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: 0.049) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

73197724-73214385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73198693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 33 (L33F)

Ref Sequence

ENSEMBL: ENSMUSP00000063244 (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: L33F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: L33F

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: L33F

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794
AA Change: L33F

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,712,927 (GRCm39)		probably null	Het
Aldh16a1	C	A	7: 44,791,391 (GRCm39)	A105S	probably damaging	Het
Angpt2	T	C	8: 18,760,641 (GRCm39)	T154A	probably benign	Het
BC051665	A	G	13: 60,930,518 (GRCm39)	V278A	probably damaging	Het
Cap1	T	C	4: 122,753,980 (GRCm39)	T458A	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,632,978 (GRCm39)	D408G	probably benign	Het
Fam217b	T	A	2: 178,062,943 (GRCm39)	S302R	probably damaging	Het
Fcho2	A	T	13: 98,926,315 (GRCm39)	D89E	probably benign	Het
Fnip1	C	T	11: 54,390,334 (GRCm39)	R434C	probably damaging	Het
Gga3	G	A	11: 115,479,928 (GRCm39)	T261M	probably damaging	Het
Gm21985	T	C	2: 112,169,741 (GRCm39)	F292L	probably damaging	Het
Gm43638	A	T	5: 87,634,074 (GRCm39)	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,657,748 (GRCm39)	G68E	probably damaging	Het
Katnip	T	A	7: 125,469,857 (GRCm39)	V1442D	probably damaging	Het
Lpcat2	G	A	8: 93,597,775 (GRCm39)	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,218,527 (GRCm39)	A1984T	possibly damaging	Het
Npy4r	T	A	14: 33,868,322 (GRCm39)	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,962,937 (GRCm39)	H840Q	probably damaging	Het
Or7g26	G	A	9: 19,230,529 (GRCm39)	G233D	probably damaging	Het
Osbpl2	G	T	2: 179,786,987 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,728,530 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,921 (GRCm39)		probably benign	Het
Ppp1r16a	A	G	15: 76,578,494 (GRCm39)		probably benign	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prkcg	A	G	7: 3,368,135 (GRCm39)	D343G	probably benign	Het
Scaf11	A	C	15: 96,317,007 (GRCm39)	S852R	probably benign	Het
Slc31a2	C	T	4: 62,210,933 (GRCm39)	T22I	probably damaging	Het
Sox30	T	A	11: 45,872,169 (GRCm39)	D341E	probably damaging	Het
Tle4	A	G	19: 14,442,704 (GRCm39)	S339P	probably benign	Het
Tsg101	A	T	7: 46,558,673 (GRCm39)	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,629,630 (GRCm39)	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,631,129 (GRCm39)	S142T	probably benign	Het
Ubr4	C	A	4: 139,140,047 (GRCm39)	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,315,635 (GRCm39)	P172Q	probably damaging	Het
Usp12	T	C	5: 146,691,250 (GRCm39)	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,529,916 (GRCm39)	M287L	probably benign	Het
Vwa8	C	T	14: 79,420,428 (GRCm39)	Q1710*	probably null	Het
Wdfy4	T	A	14: 32,825,994 (GRCm39)	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,190,616 (GRCm39)	T145A	probably benign	Het
Zfp697	T	C	3: 98,334,846 (GRCm39)	C204R	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
IGL01010:1700030K09Rik	APN	8	73,199,059 (GRCm39)	missense	probably damaging	0.98
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

2013-11-11