Mutagenetix > Incidental Mutation

Incidental Mutation 'R0227:Gm3486'

177947

Institutional Source

Beutler Lab

Gene Symbol

Gm3486

Ensembl Gene

ENSMUSG00000090505

Gene Name

predicted gene 3486

Synonyms

MMRRC Submission

038472-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R0227 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

41206189-41211442 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41206518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 185 (V185E)

Ref Sequence

ENSEMBL: ENSMUSP00000131656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169361]

AlphaFold

L7N2D0

Predicted Effect

probably benign
Transcript: ENSMUST00000169361
AA Change: V185E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131656
Gene: ENSMUSG00000090505
AA Change: V185E

Domain	Start	End	E-Value	Type
Pfam:Takusan	25	103	1.8e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

86% (37/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 136,989,438 (GRCm39)		probably benign	Het
Ankrd12	T	A	17: 66,294,222 (GRCm39)	T404S	probably benign	Het
Ap4m1	T	C	5: 138,174,538 (GRCm39)		probably benign	Het
Atn1	A	T	6: 124,723,893 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,533 (GRCm39)	Y202C	possibly damaging	Het
Ceacam18	G	T	7: 43,288,815 (GRCm39)	G189C	probably damaging	Het
Cfap65	C	T	1: 74,971,117 (GRCm39)	W67*	probably null	Het
Col2a1	C	T	15: 97,874,636 (GRCm39)	E1334K	unknown	Het
Crim1	A	G	17: 78,651,938 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,441,836 (GRCm39)	S343P	probably benign	Het
D430041D05Rik	G	T	2: 104,035,545 (GRCm39)	D1594E	possibly damaging	Het
Ess2	C	T	16: 17,720,135 (GRCm39)	V406I	probably damaging	Het
Gcm2	C	T	13: 41,259,332 (GRCm39)	V46M	probably damaging	Het
Gtf3a	C	A	5: 146,892,199 (GRCm39)	R317S	probably damaging	Het
Ice2	A	G	9: 69,319,510 (GRCm39)	I320V	probably benign	Het
Jag1	A	G	2: 136,957,538 (GRCm39)	V58A	probably benign	Het
Macf1	T	C	4: 123,293,184 (GRCm39)	E1241G	probably benign	Het
Mogat2	T	A	7: 98,872,339 (GRCm39)	I171F	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myo1c	A	T	11: 75,549,520 (GRCm39)	Y201F	probably benign	Het
Myo9b	A	G	8: 71,796,806 (GRCm39)	I884V	probably damaging	Het
Nudt9	T	C	5: 104,209,541 (GRCm39)	I264T	possibly damaging	Het
Or8g30	A	G	9: 39,229,974 (GRCm39)	V312A	probably benign	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,101,876 (GRCm39)		probably benign	Het
Rabgef1	T	C	5: 130,219,831 (GRCm39)	V98A	probably damaging	Het
Raly	A	G	2: 154,707,841 (GRCm39)	D287G	probably damaging	Het
Raph1	A	G	1: 60,565,136 (GRCm39)	V117A	probably benign	Het
Slc34a2	T	C	5: 53,226,968 (GRCm39)	F697S	possibly damaging	Het
Son	T	A	16: 91,453,761 (GRCm39)	M836K	probably damaging	Het
Spock1	T	C	13: 57,588,290 (GRCm39)	M258V	possibly damaging	Het
Stk10	G	T	11: 32,567,859 (GRCm39)	C887F	probably damaging	Het
Synpo2	A	G	3: 122,907,442 (GRCm39)	S625P	probably benign	Het
Synrg	T	A	11: 83,900,258 (GRCm39)	D821E	probably damaging	Het
Tafa5	T	C	15: 87,604,691 (GRCm39)		probably benign	Het
Tg	C	A	15: 66,570,295 (GRCm39)	A1389E	possibly damaging	Het
Tspan33	G	A	6: 29,713,477 (GRCm39)	V134M	probably damaging	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Vmn1r210	C	T	13: 23,011,561 (GRCm39)	V242I	probably benign	Het
Vmn1r63	C	T	7: 5,805,741 (GRCm39)	W297*	probably null	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Zic5	A	G	14: 122,697,073 (GRCm39)	I514T	unknown	Het

Other mutations in Gm3486

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1731:Gm3486	UTSW	14	41,206,492 (GRCm39)	missense	probably benign	0.00
R4157:Gm3486	UTSW	14	41,208,343 (GRCm39)	missense	probably benign	0.24
R6248:Gm3486	UTSW	14	41,206,472 (GRCm39)	makesense	probably null
R6397:Gm3486	UTSW	14	41,208,343 (GRCm39)	missense	probably benign	0.24
R6858:Gm3486	UTSW	14	41,210,322 (GRCm39)	missense	probably damaging	0.98
R6945:Gm3486	UTSW	14	41,206,518 (GRCm39)	missense	probably benign	0.03
R8470:Gm3486	UTSW	14	41,206,538 (GRCm39)	critical splice acceptor site	probably null
R8554:Gm3486	UTSW	14	41,209,119 (GRCm39)	missense	probably damaging	1.00
R9283:Gm3486	UTSW	14	41,210,268 (GRCm39)	missense	possibly damaging	0.80
R9352:Gm3486	UTSW	14	41,208,318 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGACATTCCCCTTAGATTCACATAAAGTCCA -3'
(R):5'- AGTACAGGCCAGGGCAGCA -3'

Sequencing Primer
(F):5'- AAGCCTTAGCCAGCGTTT -3'
(R):5'- gtgtgtactcatgtaccctttttg -3'

Posted On

2014-05-06