Mutagenetix > Incidental Mutation

Incidental Mutation 'R9288:1700012B07Rik'

704100

Institutional Source

Beutler Lab

Gene Symbol

1700012B07Rik

Ensembl Gene

ENSMUSG00000020617

Gene Name

RIKEN cDNA 1700012B07 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R9288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109679093-109718905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109704444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 66 (D66G)

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: D66G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: D66G

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: D66G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: D66G

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: ENSMUST00000143578
AA Change: D58G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617
AA Change: D58G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	T	A	4: 152,291,263 (GRCm39)	H76Q	probably damaging	Het
Acsf2	C	T	11: 94,464,044 (GRCm39)	V47M	probably benign	Het
Agmat	T	C	4: 141,474,391 (GRCm39)	S91P	probably damaging	Het
Apba1	A	G	19: 23,923,145 (GRCm39)	*843W	probably null	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,051,368 (GRCm39)	I437T	possibly damaging	Het
Bbs12	C	T	3: 37,374,712 (GRCm39)	L387F	probably damaging	Het
BC028528	T	C	3: 95,799,227 (GRCm39)	I6V	probably benign	Het
C6	A	C	15: 4,835,532 (GRCm39)	K770T		Het
Cacna1g	T	A	11: 94,308,897 (GRCm39)	K1669*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cit	C	T	5: 116,123,512 (GRCm39)	T1436I	probably damaging	Het
Col14a1	T	A	15: 55,286,918 (GRCm39)	V913E	unknown	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Epb41l2	A	G	10: 25,355,653 (GRCm39)	T486A	possibly damaging	Het
Fbln5	A	T	12: 101,734,728 (GRCm39)	C181*	probably null	Het
Flnb	A	C	14: 7,904,498 (GRCm38)	D967A	probably benign	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gm4553	GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA	GCAGCCCCCACAGGA	7: 141,719,025 (GRCm39)		probably benign	Het
Gpa33	G	A	1: 165,980,304 (GRCm39)	M122I	probably benign	Het
Gtf2ird2	A	G	5: 134,221,571 (GRCm39)	E58G	possibly damaging	Het
Hdlbp	T	C	1: 93,336,773 (GRCm39)	E1125G	probably benign	Het
Hook1	C	T	4: 95,901,505 (GRCm39)	R488C	probably damaging	Het
Isx	G	T	8: 75,619,439 (GRCm39)	A197S	probably benign	Het
Klhl10	G	T	11: 100,347,719 (GRCm39)	A592S	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Lpin3	C	A	2: 160,745,552 (GRCm39)	N618K	probably damaging	Het
Lrrc9	T	A	12: 72,522,858 (GRCm39)	D701E	probably benign	Het
Mex3a	T	A	3: 88,443,458 (GRCm39)	M178K	possibly damaging	Het
Mex3b	T	C	7: 82,518,159 (GRCm39)	V158A	probably benign	Het
Myh7	A	T	14: 55,222,932 (GRCm39)	F758I	probably benign	Het
Neb	T	G	2: 52,051,403 (GRCm39)	N6626H	probably damaging	Het
Nkd2	G	T	13: 73,995,177 (GRCm39)		probably benign	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Obscn	A	T	11: 58,976,049 (GRCm39)	F2026Y	probably benign	Het
Olr1	T	C	6: 129,470,202 (GRCm39)		probably benign	Het
Osbpl1a	A	G	18: 12,904,402 (GRCm39)	L589P	probably damaging	Het
Pcsk5	T	C	19: 17,814,345 (GRCm39)	K58E	probably benign	Het
Poll	T	C	19: 45,547,281 (GRCm39)	I64V	probably benign	Het
Prdm10	A	G	9: 31,252,674 (GRCm39)	E469G	possibly damaging	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rft1	A	T	14: 30,383,415 (GRCm39)	K152*	probably null	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,916,627 (GRCm39)	S275P	probably damaging	Het
Slit1	A	T	19: 41,613,144 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,952,927 (GRCm39)	F705L	probably damaging	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Sulf1	G	A	1: 12,856,827 (GRCm39)	R26Q	probably benign	Het
Tbc1d4	T	C	14: 101,692,308 (GRCm39)	Y1052C	probably damaging	Het
Tgfbr2	T	C	9: 115,939,149 (GRCm39)	D251G	probably benign	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Vdac2	C	A	14: 21,881,962 (GRCm39)	P7T	probably benign	Het
Vmn2r112	A	G	17: 22,822,323 (GRCm39)	K334E	probably damaging	Het
Vmn2r8	A	T	5: 108,950,185 (GRCm39)	S221T	probably benign	Het
Zfp608	G	T	18: 55,033,341 (GRCm39)	N397K	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
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

Predicted Primers

PCR Primer
(F):5'- TCATCATGGATGGTAGTGGCTC -3'
(R):5'- GGTCATTTAGAACACACCTAACGG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- ACCTAACGGTGGACTTGTGTTTTTC -3'

Posted On

2022-03-25