Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:1700109H08Rik'

344252

Institutional Source

Beutler Lab

Gene Symbol

1700109H08Rik

Ensembl Gene

ENSMUSG00000008307

Gene Name

RIKEN cDNA 1700109H08 gene

Synonyms

MMRRC Submission

041810-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3571566-3584356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3575754 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 64 (T64A)

Ref Sequence

ENSEMBL: ENSMUSP00000118797 (fasta)

Gene Model

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

AlphaFold

Q9D9C0

Predicted Effect

probably damaging
Transcript: ENSMUST00000008451
AA Change: T64A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: T64A

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

possibly damaging
Transcript: ENSMUST00000125740
AA Change: T23A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307
AA Change: T23A

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 damaging
Transcript: ENSMUST00000147801
AA Change: T64A

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

SMART Domains

Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307
AA Change: T64A

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

noncoding transcript
Transcript: ENSMUST00000198134

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in 1700109H08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:1700109H08Rik	APN	5	3580453	missense	probably damaging	1.00
IGL01948:1700109H08Rik	APN	5	3577326	missense	probably damaging	1.00
IGL02040:1700109H08Rik	APN	5	3580405	missense	probably damaging	1.00
IGL02558:1700109H08Rik	APN	5	3582194	makesense	probably null
IGL02719:1700109H08Rik	APN	5	3582150	missense	probably damaging	1.00
R1831:1700109H08Rik	UTSW	5	3577255	missense	probably damaging	1.00
R2520:1700109H08Rik	UTSW	5	3575773	missense	probably damaging	1.00
R3915:1700109H08Rik	UTSW	5	3577248	missense	possibly damaging	0.69
R6197:1700109H08Rik	UTSW	5	3580442	nonsense	probably null
R8361:1700109H08Rik	UTSW	5	3582153	missense	possibly damaging	0.84
R8747:1700109H08Rik	UTSW	5	3582240	missense	probably benign	0.03
R9328:1700109H08Rik	UTSW	5	3582161	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACAATCGCACATCATGTCTGG -3'
(R):5'- TGTCCTCACAATCATCCCGG -3'

Sequencing Primer
(F):5'- ACATCATGTCTGGCCATCTGG -3'
(R):5'- AATCATCCCGGTTCTGTTTCTAACG -3'

Posted On

2015-09-25