Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02558:1700109H08Rik'

298378

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 #

IGL02558

Quality Score

Status

Chromosome

Chromosomal Location

3621716-3634341 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to C at 3632194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 25 (*25C)

Gene Model

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

AlphaFold

Q9D9C0

Predicted Effect

probably benign
Transcript: ENSMUST00000008451
AA Change: K175Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: K175Q

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 null
Transcript: ENSMUST00000156973
AA Change: *25C

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,349,387 (GRCm39)	Y3654H	probably damaging	Het
Ankle1	T	C	8: 71,861,636 (GRCm39)	F438S	probably damaging	Het
Atp10a	A	T	7: 58,469,390 (GRCm39)	R1080S	probably damaging	Het
Ccdc51	A	T	9: 108,921,252 (GRCm39)	N380Y	probably damaging	Het
Ccr8	A	T	9: 119,923,724 (GRCm39)	I280F	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep162	T	C	9: 87,107,786 (GRCm39)	T535A	probably benign	Het
Cep162	G	T	9: 87,107,779 (GRCm39)	T537N	probably benign	Het
Cfap52	T	C	11: 67,844,964 (GRCm39)	D35G	probably benign	Het
Cmip	G	A	8: 118,175,827 (GRCm39)	S530N	probably damaging	Het
Col9a3	A	T	2: 180,248,599 (GRCm39)		probably null	Het
Csf3r	T	C	4: 125,931,928 (GRCm39)		probably benign	Het
Csk	C	T	9: 57,537,546 (GRCm39)	E123K	probably benign	Het
Csrnp3	G	A	2: 65,852,573 (GRCm39)	E322K	probably damaging	Het
Ddx11	A	T	17: 66,455,667 (GRCm39)	I663F	probably damaging	Het
Dnah1	T	A	14: 30,996,336 (GRCm39)	M2667L	possibly damaging	Het
Foxred1	T	C	9: 35,121,429 (GRCm39)	K40E	probably damaging	Het
Gata2	C	T	6: 88,176,762 (GRCm39)	P74S	probably benign	Het
Gdf10	T	G	14: 33,645,937 (GRCm39)	C29G	probably benign	Het
Hectd4	A	G	5: 121,482,848 (GRCm39)	E3133G	probably benign	Het
Ints8	G	A	4: 11,218,771 (GRCm39)	R784W	probably damaging	Het
Lrriq1	T	C	10: 102,982,144 (GRCm39)	E1392G	probably damaging	Het
Muc19	T	C	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myom2	A	T	8: 15,164,237 (GRCm39)	D1044V	probably benign	Het
Nphp4	G	T	4: 152,639,988 (GRCm39)	R958L	probably damaging	Het
Nup205	C	T	6: 35,166,859 (GRCm39)	P293S	probably damaging	Het
Or10ag60	T	C	2: 87,437,903 (GRCm39)	I57T	probably benign	Het
Or1e17	A	T	11: 73,831,651 (GRCm39)	H193L	probably benign	Het
Plxdc2	A	G	2: 16,674,409 (GRCm39)		probably benign	Het
Pwp2	T	C	10: 78,014,899 (GRCm39)	S362G	probably damaging	Het
Siglec1	G	T	2: 130,916,915 (GRCm39)	S1113R	possibly damaging	Het
Sirpa	A	G	2: 129,471,989 (GRCm39)	E472G	probably damaging	Het
Slc39a4	G	T	15: 76,498,403 (GRCm39)	L345M	probably damaging	Het
Snx27	C	T	3: 94,410,188 (GRCm39)	R496Q	probably damaging	Het
Stard9	A	G	2: 120,527,388 (GRCm39)	H1215R	possibly damaging	Het
Stau1	A	G	2: 166,792,768 (GRCm39)	Y371H	probably benign	Het
Sult2a1	A	C	7: 13,566,520 (GRCm39)	W152G	probably benign	Het
Syt16	A	T	12: 74,281,832 (GRCm39)	K319*	probably null	Het
Tcf7	T	A	11: 52,144,797 (GRCm39)		probably benign	Het
Tfdp1	A	G	8: 13,419,546 (GRCm39)	N92D	possibly damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	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
IGL02040:1700109H08Rik	APN	5	3,630,405 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16