Mutagenetix > Incidental Mutation

Incidental Mutation 'R5258:Gm12887'

401225

Institutional Source

Beutler Lab

Gene Symbol

Gm12887

Ensembl Gene

ENSMUSG00000078575

Gene Name

predicted gene 12887

Synonyms

MMRRC Submission

042828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121471468-121479300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121472897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 82 (K82E)

Ref Sequence

ENSEMBL: ENSMUSP00000101872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106265]

AlphaFold

B1AVM1

Predicted Effect

probably benign
Transcript: ENSMUST00000106265
AA Change: K82E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101872
Gene: ENSMUSG00000078575
AA Change: K82E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Palm_thioest	37	119	2.4e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,266 (GRCm39)	D233V	probably damaging	Het
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Abcc8	T	C	7: 45,757,811 (GRCm39)	I1313V	probably benign	Het
Abcc8	C	T	7: 45,806,572 (GRCm39)	V379I	probably benign	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
B3gnt7	A	G	1: 86,233,287 (GRCm39)	K61E	possibly damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cd1d2	C	G	3: 86,894,954 (GRCm39)	R147G	possibly damaging	Het
Cfap68	T	C	9: 50,675,633 (GRCm39)		probably benign	Het
Cfap69	T	C	5: 5,654,271 (GRCm39)		probably null	Het
Ddx46	T	C	13: 55,800,837 (GRCm39)	F331L	possibly damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Invs	A	G	4: 48,396,374 (GRCm39)	D349G	possibly damaging	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Lipo3	T	A	19: 33,591,243 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Map3k6	T	C	4: 132,974,953 (GRCm39)	V662A	possibly damaging	Het
Megf8	T	A	7: 25,047,751 (GRCm39)	F1645I	possibly damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mib1	G	A	18: 10,795,856 (GRCm39)		probably null	Het
Mrps6	T	A	16: 91,896,543 (GRCm39)	V36E	probably damaging	Het
Nhsl1	C	A	10: 18,400,070 (GRCm39)	S432*	probably null	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Nlrp4c	T	A	7: 6,069,622 (GRCm39)	S508T	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5d37	A	T	2: 87,923,762 (GRCm39)	Y173N	probably benign	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptprg	A	G	14: 12,142,431 (GRCm38)	T361A	probably benign	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tas2r114	T	A	6: 131,666,504 (GRCm39)	I175F	probably benign	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Trav14-1	C	T	14: 53,791,730 (GRCm39)	H27Y	probably benign	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Vmn2r90	A	G	17: 17,933,114 (GRCm39)	I225V	probably benign	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp407	C	T	18: 84,334,051 (GRCm39)	V1761I	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	Het

Other mutations in Gm12887

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Gm12887	APN	4	121,473,610 (GRCm39)	splice site	probably benign
IGL02113:Gm12887	APN	4	121,473,692 (GRCm39)	missense	probably benign	0.32
R0055:Gm12887	UTSW	4	121,473,666 (GRCm39)	missense	probably damaging	0.98
R0055:Gm12887	UTSW	4	121,473,666 (GRCm39)	missense	probably damaging	0.98
R1673:Gm12887	UTSW	4	121,473,655 (GRCm39)	missense	probably damaging	0.98
R1784:Gm12887	UTSW	4	121,473,715 (GRCm39)	missense	probably benign	0.44
R1843:Gm12887	UTSW	4	121,479,227 (GRCm39)	missense	probably damaging	0.98
R4231:Gm12887	UTSW	4	121,479,299 (GRCm39)	start codon destroyed	probably null	0.53
R6528:Gm12887	UTSW	4	121,472,834 (GRCm39)	missense	probably damaging	1.00
R8037:Gm12887	UTSW	4	121,472,887 (GRCm39)	missense	probably damaging	1.00
R9038:Gm12887	UTSW	4	121,473,616 (GRCm39)	critical splice donor site	probably null
R9073:Gm12887	UTSW	4	121,479,238 (GRCm39)	splice site	probably null
R9157:Gm12887	UTSW	4	121,473,701 (GRCm39)	missense	probably benign	0.06
R9313:Gm12887	UTSW	4	121,473,701 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCACAATGCTTACAGGAACATC -3'
(R):5'- TGACCTAGTGCACATATGATGGG -3'

Sequencing Primer
(F):5'- ACAATGCTTACAGGAACATCTTAAAG -3'
(R):5'- GTGAAGCAAGCCTGTGATACCTTC -3'

Posted On

2016-07-06