Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02040:1700109H08Rik'

184705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700109H08Rik

Ensembl Gene

ENSMUSG00000008307

Gene Name

RIKEN cDNA 1700109H08 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02040

Quality Score

Status

Chromosome

Chromosomal Location

3621716-3634341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3630405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 107 (F107C)

Ref Sequence

ENSEMBL: ENSMUSP00000008451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008451] [ENSMUST00000042753] [ENSMUST00000125740] [ENSMUST00000147801]

AlphaFold

Q9D9C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000008451
AA Change: F107C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: F107C

Domain	Start	End	E-Value	Type
EFh	68	96	1.56e-3	SMART
EFh	104	132	6.45e1	SMART
EFh	149	177	1.45e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042753

SMART Domains

Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302

Domain	Start	End	E-Value	Type
Pfam:RRM_5	104	164	6.5e-11	PFAM
low complexity region	229	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125740

SMART Domains

Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	27	55	1e-8	PFAM
Pfam:EF-hand_6	27	62	8.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147801

SMART Domains

Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	68	96	1.2e-7	PFAM
Pfam:EF-hand_6	68	99	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156973

Predicted Effect

probably benign
Transcript: ENSMUST00000176000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198718

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
A830018L16Rik	T	A	1: 12,003,822 (GRCm39)		probably benign	Het
Adgrb1	T	C	15: 74,413,424 (GRCm39)	V536A	possibly damaging	Het
Ano6	T	G	15: 95,853,825 (GRCm39)	I667R	probably benign	Het
Ap3b1	T	A	13: 94,545,353 (GRCm39)		probably null	Het
Azin2	G	T	4: 128,844,451 (GRCm39)	L37M	possibly damaging	Het
Caap1	A	G	4: 94,438,667 (GRCm39)	I174T	probably damaging	Het
Cacna1h	A	G	17: 25,616,585 (GRCm39)	V46A	probably benign	Het
Chrna6	T	C	8: 27,897,289 (GRCm39)	D196G	probably damaging	Het
Col19a1	A	G	1: 24,351,126 (GRCm39)		probably null	Het
Defb22	G	T	2: 152,331,976 (GRCm39)	T19K	possibly damaging	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dync1h1	A	G	12: 110,603,558 (GRCm39)	I2211V	probably benign	Het
Ecel1	A	C	1: 87,082,645 (GRCm39)	C23G	probably benign	Het
Elmod2	A	G	8: 84,048,126 (GRCm39)	V112A	probably damaging	Het
Enpp1	T	C	10: 24,531,754 (GRCm39)	K510E	probably damaging	Het
Erbb4	A	T	1: 68,081,694 (GRCm39)	S1113R	probably damaging	Het
Esf1	A	T	2: 139,971,181 (GRCm39)	D653E	possibly damaging	Het
Exd1	A	G	2: 119,370,546 (GRCm39)	V54A	possibly damaging	Het
Fam227b	A	T	2: 125,963,004 (GRCm39)		probably benign	Het
Fnbp1l	A	G	3: 122,364,602 (GRCm39)		probably benign	Het
Foxf1	A	G	8: 121,812,084 (GRCm39)	N316S	probably damaging	Het
Gpaa1	T	C	15: 76,218,495 (GRCm39)	V426A	probably benign	Het
Gpc2	A	G	5: 138,274,844 (GRCm39)		probably null	Het
Hnrnpab	A	G	11: 51,492,622 (GRCm39)		probably benign	Het
Hsf4	T	G	8: 106,002,299 (GRCm39)		probably benign	Het
Inpp4a	G	T	1: 37,435,166 (GRCm39)	R179L	probably damaging	Het
Jakmip2	T	A	18: 43,704,919 (GRCm39)	M361L	probably benign	Het
Kif15	A	C	9: 122,846,450 (GRCm39)	Y117S	probably damaging	Het
Lnpep	T	C	17: 17,765,167 (GRCm39)	H761R	probably benign	Het
Masp2	G	T	4: 148,688,270 (GRCm39)	C180F	probably damaging	Het
Mical2	A	G	7: 111,910,613 (GRCm39)	E261G	probably damaging	Het
Mtmr7	T	C	8: 41,013,926 (GRCm39)	I211V	probably benign	Het
Nsd2	T	C	5: 34,024,915 (GRCm39)		probably benign	Het
Or4c121	A	G	2: 89,023,907 (GRCm39)	I157T	probably benign	Het
Or51q1c	A	G	7: 103,652,614 (GRCm39)	N44S	probably damaging	Het
Or8d1b	T	C	9: 38,887,910 (GRCm39)		probably benign	Het
Or8j3c	A	G	2: 86,253,336 (GRCm39)	I228T	probably damaging	Het
Oxct1	G	A	15: 4,056,250 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,824,516 (GRCm39)		probably benign	Het
Plbd2	C	T	5: 120,625,507 (GRCm39)	S430N	probably damaging	Het
Postn	A	G	3: 54,270,110 (GRCm39)	K63R	probably benign	Het
Pramel19	G	A	4: 101,798,331 (GRCm39)	V101I	possibly damaging	Het
Proc	A	T	18: 32,267,913 (GRCm39)	V75E	probably benign	Het
Ptprt	T	C	2: 162,079,992 (GRCm39)	Y269C	probably damaging	Het
Rcc2	T	C	4: 140,447,902 (GRCm39)	V476A	possibly damaging	Het
Recql5	A	G	11: 115,823,623 (GRCm39)	V41A	possibly damaging	Het
Ros1	T	A	10: 51,992,018 (GRCm39)	I1402F	probably damaging	Het
Rpgrip1	C	T	14: 52,358,476 (GRCm39)	T194I	possibly damaging	Het
Scin	T	C	12: 40,119,452 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,003,679 (GRCm39)		probably benign	Het
Sptan1	T	A	2: 29,903,725 (GRCm39)	S1545T	probably benign	Het
Tpra1	A	T	6: 88,887,164 (GRCm39)	H168L	possibly damaging	Het
Trim47	T	C	11: 115,998,734 (GRCm39)	E295G	probably damaging	Het
Ttc28	T	A	5: 111,040,802 (GRCm39)	C63*	probably null	Het
Usp45	G	A	4: 21,830,433 (GRCm39)	R696H	probably benign	Het
Zfyve27	G	A	19: 42,167,830 (GRCm39)	R124Q	probably damaging	Het

Other mutations in 1700109H08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:1700109H08Rik	APN	5	3,630,453 (GRCm39)	missense	probably damaging	1.00
IGL01948:1700109H08Rik	APN	5	3,627,326 (GRCm39)	missense	probably damaging	1.00
IGL02558:1700109H08Rik	APN	5	3,632,194 (GRCm39)	makesense	probably null
IGL02719:1700109H08Rik	APN	5	3,632,150 (GRCm39)	missense	probably damaging	1.00
R1831:1700109H08Rik	UTSW	5	3,627,255 (GRCm39)	missense	probably damaging	1.00
R2520:1700109H08Rik	UTSW	5	3,625,773 (GRCm39)	missense	probably damaging	1.00
R3915:1700109H08Rik	UTSW	5	3,627,248 (GRCm39)	missense	possibly damaging	0.69
R4594:1700109H08Rik	UTSW	5	3,625,754 (GRCm39)	missense	probably damaging	1.00
R6197:1700109H08Rik	UTSW	5	3,630,442 (GRCm39)	nonsense	probably null
R8361:1700109H08Rik	UTSW	5	3,632,153 (GRCm39)	missense	possibly damaging	0.84
R8747:1700109H08Rik	UTSW	5	3,632,240 (GRCm39)	missense	probably benign	0.03
R9328:1700109H08Rik	UTSW	5	3,632,161 (GRCm39)	missense	possibly damaging	0.71

Posted On

2014-05-07