Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01916:1700012B07Rik'

179961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700012B07Rik

Ensembl Gene

ENSMUSG00000020617

Gene Name

RIKEN cDNA 1700012B07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01916

Quality Score

Status

Chromosome

Chromosomal Location

109679093-109718905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109684937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

Ref Sequence

ENSEMBL: ENSMUSP00000102285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020941] [ENSMUST00000106674] [ENSMUST00000143578]

AlphaFold

Q3V0S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020941
AA Change: T187A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: T187A

Domain	Start	End	E-Value	Type
low complexity region	41	46	N/A	INTRINSIC
low complexity region	61	71	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106674
AA Change: T187A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: T187A

Domain	Start	End	E-Value	Type
low complexity region	41	46	N/A	INTRINSIC
low complexity region	61	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143578

SMART Domains

Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617

Domain	Start	End	E-Value	Type
low complexity region	33	38	N/A	INTRINSIC
low complexity region	53	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147006

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	C	A	4: 154,045,997 (GRCm39)	F214L	possibly damaging	Het
A830018L16Rik	C	A	1: 11,818,331 (GRCm39)		probably benign	Het
Adgrd1	T	C	5: 129,209,902 (GRCm39)	S342P	probably benign	Het
Aldh4a1	A	G	4: 139,371,457 (GRCm39)	Y457C	probably damaging	Het
Ankrd7	A	T	6: 18,868,250 (GRCm39)	E124V	possibly damaging	Het
Atad5	T	A	11: 80,003,665 (GRCm39)		probably null	Het
Card14	T	C	11: 119,233,971 (GRCm39)	Y854H	probably benign	Het
Ccdc85c	T	C	12: 108,174,103 (GRCm39)	H355R	probably damaging	Het
Ccr3	T	A	9: 123,829,589 (GRCm39)	V308D	probably damaging	Het
Cep170	T	C	1: 176,567,476 (GRCm39)		probably benign	Het
Cmtr2	C	A	8: 110,948,580 (GRCm39)	Q297K	probably benign	Het
Col19a1	A	C	1: 24,573,322 (GRCm39)	L150R	unknown	Het
Cwf19l2	T	C	9: 3,477,869 (GRCm39)	I858T	possibly damaging	Het
Cyp39a1	C	T	17: 44,041,941 (GRCm39)	P383S	probably damaging	Het
Ddi2	C	T	4: 141,422,709 (GRCm39)		probably benign	Het
Dnah17	T	G	11: 118,016,114 (GRCm39)	I342L	probably benign	Het
Efhc1	T	C	1: 21,048,973 (GRCm39)	I462T	probably damaging	Het
Ephx4	A	T	5: 107,553,896 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,698,031 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,157,366 (GRCm39)	N2306D	possibly damaging	Het
Folr1	A	T	7: 101,507,947 (GRCm39)	H164Q	probably benign	Het
Fut10	T	C	8: 31,725,734 (GRCm39)	V163A	probably benign	Het
Gal3st4	G	A	5: 138,269,197 (GRCm39)	R83C	probably damaging	Het
Galnt16	T	C	12: 80,639,264 (GRCm39)		probably null	Het
Gata5	G	A	2: 179,968,734 (GRCm39)	S380F	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4787	A	T	12: 81,424,218 (GRCm39)	L647M	probably benign	Het
Gvin3	T	G	7: 106,201,033 (GRCm39)	H737P	probably benign	Het
Hcfc2	A	G	10: 82,570,217 (GRCm39)	K523E	possibly damaging	Het
Ift70a1	C	A	2: 75,811,223 (GRCm39)	V287L	probably damaging	Het
Igkv6-15	A	T	6: 70,383,458 (GRCm39)	Y114*	probably null	Het
Il10ra	A	T	9: 45,167,444 (GRCm39)	L369Q	probably damaging	Het
Il6st	A	G	13: 112,616,606 (GRCm39)	K51R	possibly damaging	Het
Kif26a	C	T	12: 112,143,328 (GRCm39)	P1194L	possibly damaging	Het
Kntc1	T	G	5: 123,939,976 (GRCm39)	L1590R	probably damaging	Het
Lipo3	G	T	19: 33,762,182 (GRCm39)	A105E	probably damaging	Het
Macf1	T	A	4: 123,335,423 (GRCm39)	S4382C	probably damaging	Het
Macf1	C	T	4: 123,369,830 (GRCm39)	E79K	probably damaging	Het
Nmnat2	T	C	1: 152,969,792 (GRCm39)	I195T	probably damaging	Het
Or11g25	A	G	14: 50,722,950 (GRCm39)	T12A	probably benign	Het
Pcdhb13	A	G	18: 37,576,914 (GRCm39)	T431A	possibly damaging	Het
Pcgf3	G	A	5: 108,634,045 (GRCm39)	G101D	probably benign	Het
Phip	T	C	9: 82,772,522 (GRCm39)	D1070G	possibly damaging	Het
Ren1	A	G	1: 133,286,150 (GRCm39)	H231R	probably benign	Het
Sox9	C	A	11: 112,675,500 (GRCm39)	Q230K	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,498,497 (GRCm39)	Y154N	probably damaging	Het
Thnsl1	A	T	2: 21,217,476 (GRCm39)	N410I	possibly damaging	Het
Tnfrsf21	A	T	17: 43,350,694 (GRCm39)	E286V	probably benign	Het
Trbv13-1	A	G	6: 41,093,246 (GRCm39)	R60G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wrn	T	A	8: 33,747,252 (GRCm39)	I1110F	possibly damaging	Het
Zfp777	G	T	6: 48,002,276 (GRCm39)	R649S	probably damaging	Het
Zmym6	T	A	4: 127,017,549 (GRCm39)	I1110N	probably damaging	Het

Other mutations in 1700012B07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03006:1700012B07Rik	APN	11	109,718,671 (GRCm39)	missense	probably damaging	0.98
R0626:1700012B07Rik	UTSW	11	109,679,547 (GRCm39)	unclassified	probably benign
R1566:1700012B07Rik	UTSW	11	109,679,632 (GRCm39)	missense	probably benign	0.01
R1654:1700012B07Rik	UTSW	11	109,688,225 (GRCm39)	missense	probably benign	0.36
R2373:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R2405:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R2410:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R2411:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3707:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3708:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3732:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3745:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3783:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3784:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3785:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3805:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3806:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3922:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R3926:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4085:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4089:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4110:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4111:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4112:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4171:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R4506:1700012B07Rik	UTSW	11	109,685,087 (GRCm39)	missense	probably damaging	1.00
R4825:1700012B07Rik	UTSW	11	109,682,498 (GRCm39)	missense	probably benign	0.00
R5032:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R5033:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R5971:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R6078:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R6079:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R6138:1700012B07Rik	UTSW	11	109,684,980 (GRCm39)	nonsense	probably null
R6354:1700012B07Rik	UTSW	11	109,685,042 (GRCm39)	missense	probably benign	0.33
R8752:1700012B07Rik	UTSW	11	109,704,396 (GRCm39)	missense	probably damaging	0.99
R9288:1700012B07Rik	UTSW	11	109,704,444 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07