Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:1700003F12Rik'

167976

Institutional Source

Beutler Lab

Gene Symbol

1700003F12Rik

Ensembl Gene

ENSMUSG00000038523

Gene Name

RIKEN cDNA 1700003F12 gene

Synonyms

MMRRC Submission

039555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1507 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

154390824-154391970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 154391539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 102 (V102G)

Ref Sequence

ENSEMBL: ENSMUSP00000105331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000895] [ENSMUST00000045116] [ENSMUST00000104928] [ENSMUST00000109709] [ENSMUST00000109716] [ENSMUST00000125793] [ENSMUST00000226583]

AlphaFold

A2AKE5

Predicted Effect

probably benign
Transcript: ENSMUST00000000895

SMART Domains

Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	58	7.3e-8	PFAM
Pfam:EF-hand_5	32	57	4.6e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
coiled coil region	209	237	N/A	INTRINSIC
Pfam:ABM	252	327	4.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045116
AA Change: V89G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035523
Gene: ENSMUSG00000038523
AA Change: V89G

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	194	2.1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000104928

SMART Domains

Protein: ENSMUSP00000100532
Gene: ENSMUSG00000078129

Domain	Start	End	E-Value	Type
ACTIN	2	345	2.52e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109709
AA Change: V102G

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105331
Gene: ENSMUSG00000038523
AA Change: V102G

Domain	Start	End	E-Value	Type
Pfam:Bclt	1	207	1.9e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109716

SMART Domains

Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	31	59	6.9e-8	PFAM
Pfam:EF-hand_5	32	57	1.7e-9	PFAM
low complexity region	180	203	N/A	INTRINSIC
Pfam:ABM	232	303	2.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124382

Predicted Effect

probably benign
Transcript: ENSMUST00000125793

SMART Domains

Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

Domain	Start	End	E-Value	Type
low complexity region	146	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130824

Predicted Effect

probably benign
Transcript: ENSMUST00000226583

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	Het

Other mutations in 1700003F12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6127:1700003F12Rik	UTSW	2	154,391,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTTTCAGTGGCGAGAGGCTCC -3'
(R):5'- TTTTGACCAGGTGACCGACAGCAG -3'

Sequencing Primer
(F):5'- ATGCAGTGGTCAATGGGTTCC -3'
(R):5'- GCAGACACAGGGTTTGCTATG -3'

Posted On

2014-04-13