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

72443880-72461001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72444849 bp (GRCm38)

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: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	72455349	missense	probably damaging	1.00
IGL01010:1700030K09Rik	APN	8	72445215	missense	probably damaging	0.98
IGL01714:1700030K09Rik	APN	8	72455569	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	72445199	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	72445124	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	72445400	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	72455372	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	72451386	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	72449633	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	72455115	missense	probably benign	0.01
R2154:1700030K09Rik	UTSW	8	72455115	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	72455403	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	72445169	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	72445164	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	72455423	missense	possibly damaging	0.87
R4860:1700030K09Rik	UTSW	8	72455423	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	72455118	missense	probably benign	0.02
R5857:1700030K09Rik	UTSW	8	72449525	missense	probably benign	0.04
R6256:1700030K09Rik	UTSW	8	72451428	missense	probably damaging	1.00
R7129:1700030K09Rik	UTSW	8	72455355	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	72449459	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	72444911	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	72445375	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	72445079	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	72445079	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	72458044	missense	possibly damaging	0.86

Posted On

2013-11-11