Mutagenetix > Incidental Mutation

Incidental Mutation 'R1654:1700012B07Rik'

188960

Institutional Source

Beutler Lab

Gene Symbol

1700012B07Rik

Ensembl Gene

ENSMUSG00000020617

Gene Name

RIKEN cDNA 1700012B07 gene

Synonyms

MMRRC Submission

039690-MU

Accession Numbers

Essential gene?

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

Stock #

R1654 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109679093-109718905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109688225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 90 (S90N)

Ref Sequence

ENSEMBL: ENSMUSP00000102285 (fasta)

Gene Model

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

AlphaFold

Q3V0S8

Predicted Effect

probably benign
Transcript: ENSMUST00000020941
AA Change: S90N

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: S90N

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: ENSMUST00000106674
AA Change: S90N

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: S90N

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
AA Change: S82N

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617
AA Change: S82N

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	C	T	10: 80,137,676 (GRCm39)	T39I	possibly damaging	Het
Arfgef3	C	T	10: 18,500,896 (GRCm39)	R1118K	probably null	Het
Arhgef12	T	C	9: 42,908,956 (GRCm39)	D658G	possibly damaging	Het
Asph	G	T	4: 9,453,315 (GRCm39)	R736S	probably benign	Het
Bcas1	C	T	2: 170,191,166 (GRCm39)	G542E	probably damaging	Het
Brd8	A	T	18: 34,744,279 (GRCm39)	V183E	probably damaging	Het
C1rl	G	A	6: 124,470,869 (GRCm39)	G59E	probably damaging	Het
Cacna1i	C	A	15: 80,273,411 (GRCm39)	A1699D	probably damaging	Het
Card6	G	T	15: 5,128,214 (GRCm39)	Q1061K	probably benign	Het
Cd163	G	T	6: 124,294,540 (GRCm39)	C566F	probably damaging	Het
Cd84	C	T	1: 171,712,173 (GRCm39)	T263I	possibly damaging	Het
Cep63	T	C	9: 102,464,112 (GRCm39)	I740V	possibly damaging	Het
Chaf1b	C	A	16: 93,691,791 (GRCm39)	A279D	probably damaging	Het
Chsy3	A	T	18: 59,309,488 (GRCm39)	Y247F	probably damaging	Het
Cpxm1	G	A	2: 130,235,466 (GRCm39)	L509F	possibly damaging	Het
Disc1	A	T	8: 125,875,204 (GRCm39)	Q558L	possibly damaging	Het
Dnah3	A	T	7: 119,525,672 (GRCm39)	L3894Q	probably damaging	Het
Dnmt1	G	T	9: 20,847,870 (GRCm39)	T105N	possibly damaging	Het
Dock6	A	T	9: 21,716,139 (GRCm39)	L1732Q	probably damaging	Het
Dsc2	T	C	18: 20,179,303 (GRCm39)	N255S	probably benign	Het
Dsel	A	T	1: 111,790,242 (GRCm39)	Y98N	probably damaging	Het
Enox1	T	A	14: 77,848,814 (GRCm39)	I375N	possibly damaging	Het
Epha4	T	A	1: 77,351,405 (GRCm39)		probably null	Het
Fktn	A	G	4: 53,761,220 (GRCm39)	I446V	probably benign	Het
Garin4	T	C	1: 190,895,678 (GRCm39)	R322G	probably benign	Het
Gm7361	G	T	5: 26,466,097 (GRCm39)	R153L	probably damaging	Het
Grin2c	C	T	11: 115,151,679 (GRCm39)	V94I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Krt80	T	C	15: 101,249,590 (GRCm39)	K255E	probably damaging	Het
Lcn6	T	A	2: 25,570,787 (GRCm39)		probably null	Het
Lonp2	T	G	8: 87,358,078 (GRCm39)	L100V	probably damaging	Het
Lyn	G	A	4: 3,789,912 (GRCm39)	A482T	probably damaging	Het
Mapk4	A	G	18: 74,064,010 (GRCm39)	F404S	probably damaging	Het
Mast2	T	C	4: 116,173,747 (GRCm39)		probably null	Het
Medag	T	C	5: 149,345,600 (GRCm39)	Y94H	probably damaging	Het
Megf8	T	C	7: 25,037,911 (GRCm39)	L809P	possibly damaging	Het
Mgam	T	C	6: 40,734,421 (GRCm39)	S743P	probably damaging	Het
Mia2	C	A	12: 59,155,619 (GRCm39)	T445K	possibly damaging	Het
Mtcl3	A	T	10: 29,022,931 (GRCm39)		probably null	Het
Nars1	C	G	18: 64,645,120 (GRCm39)	A43P	probably damaging	Het
Nav3	T	C	10: 109,688,984 (GRCm39)	N431S	possibly damaging	Het
Ndufaf5	A	G	2: 140,019,220 (GRCm39)		probably null	Het
Nlrp1b	T	G	11: 71,072,124 (GRCm39)	E573A	probably damaging	Het
Nlrp3	T	C	11: 59,433,949 (GRCm39)	V4A	probably benign	Het
Or2y1d	G	A	11: 49,321,329 (GRCm39)	G9R	probably benign	Het
Or56b2	A	T	7: 104,337,420 (GRCm39)	Y66F	probably benign	Het
Or5ac15	T	C	16: 58,940,052 (GRCm39)	N127S	possibly damaging	Het
Pcdhb12	A	T	18: 37,569,754 (GRCm39)	D300V	probably damaging	Het
Pik3c2a	A	T	7: 115,968,083 (GRCm39)	C804S	probably benign	Het
Pkp4	A	T	2: 59,167,963 (GRCm39)	Q725L	probably damaging	Het
Ptpre	T	A	7: 135,255,657 (GRCm39)	S119T	probably benign	Het
Ptprk	G	A	10: 28,259,643 (GRCm39)	R361H	probably damaging	Het
Ptprr	T	C	10: 116,024,268 (GRCm39)	V193A	probably benign	Het
Rfx2	C	T	17: 57,115,263 (GRCm39)	A19T	probably benign	Het
Rgs4	T	A	1: 169,572,880 (GRCm39)	M19L	probably benign	Het
Rnf157	T	C	11: 116,249,541 (GRCm39)	H225R	probably damaging	Het
Rnf44	A	T	13: 54,829,592 (GRCm39)	D341E	possibly damaging	Het
Sct	T	A	7: 140,858,767 (GRCm39)	Q55L	probably damaging	Het
Sh3rf1	A	T	8: 61,814,779 (GRCm39)	H446L	possibly damaging	Het
Shisa3	A	T	5: 67,768,402 (GRCm39)	I101F	probably damaging	Het
Slc6a13	A	G	6: 121,313,885 (GRCm39)	I543V	probably benign	Het
Spef2	G	A	15: 9,634,738 (GRCm39)	A1024V	probably damaging	Het
St6galnac6	T	C	2: 32,509,521 (GRCm39)	S330P	probably damaging	Het
Stard9	G	T	2: 120,534,203 (GRCm39)	A3487S	probably benign	Het
Suclg2	T	C	6: 95,632,532 (GRCm39)	S46G	probably damaging	Het
Syne2	T	C	12: 76,147,868 (GRCm39)	V6469A	possibly damaging	Het
Tada2b	C	T	5: 36,641,139 (GRCm39)	G88D	probably damaging	Het
Tll1	A	T	8: 64,570,937 (GRCm39)		probably null	Het
Tph2	T	A	10: 115,020,712 (GRCm39)	H28L	probably benign	Het
Trmt6	C	A	2: 132,657,755 (GRCm39)	V34L	possibly damaging	Het
Ttc22	A	G	4: 106,491,408 (GRCm39)	T204A	probably damaging	Het
Umodl1	A	T	17: 31,206,942 (GRCm39)	M778L	probably benign	Het
Vcan	T	C	13: 89,810,065 (GRCm39)	H2282R	probably damaging	Het
Vmn2r77	T	A	7: 86,461,123 (GRCm39)	S816R	probably damaging	Het
Vps13c	T	A	9: 67,858,969 (GRCm39)	F2806L	probably damaging	Het
Zbtb4	C	A	11: 69,669,995 (GRCm39)	A906D	probably damaging	Het
Zscan29	A	G	2: 120,995,260 (GRCm39)	V421A	probably benign	Het

Other mutations in 1700012B07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:1700012B07Rik	APN	11	109,684,937 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TCTAATCGGAAACAATGGCAGGCAG -3'
(R):5'- ACCACAGCTTCCCAATCTTGGC -3'

Sequencing Primer
(F):5'- CAGAGTCTGGGTGGGAATC -3'
(R):5'- CAATCTTGGCTCTTGGTGC -3'

Posted On

2014-05-09