Mutagenetix > Incidental Mutation

Incidental Mutation 'R6080:Gm14326'

482877

Institutional Source

Beutler Lab

Gene Symbol

Gm14326

Ensembl Gene

ENSMUSG00000078862

Gene Name

predicted gene 14326

Synonyms

MMRRC Submission

044239-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R6080 (G1)

Quality Score

92.0077

Status

Not validated

Chromosome

Chromosomal Location

177577786-177599090 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 177578339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 68 (T68S)

Ref Sequence

ENSEMBL: ENSMUSP00000104560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108932]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108932
AA Change: T68S

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

SMART Domains

Protein: ENSMUSP00000104560
Gene: ENSMUSG00000078862
AA Change: T68S

Domain	Start	End	E-Value	Type
KRAB	4	66	2.43e-13	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	C	T	14: 118,906,462 (GRCm39)	M44I	possibly damaging	Het
Anks1b	C	A	10: 90,802,211 (GRCm39)	S1209*	probably null	Het
Atp9b	A	G	18: 80,782,023 (GRCm39)	V1039A	probably benign	Het
Bltp3a	T	C	17: 28,099,271 (GRCm39)	S278P	probably benign	Het
Cep44	T	C	8: 56,992,876 (GRCm39)	K246R	possibly damaging	Het
Cfap54	A	T	10: 92,881,197 (GRCm39)	D330E	possibly damaging	Het
Dnah10	A	T	5: 124,882,961 (GRCm39)	M2940L	possibly damaging	Het
Gm4922	A	C	10: 18,660,500 (GRCm39)	I74S	probably damaging	Het
Ints14	G	A	9: 64,874,044 (GRCm39)	V99I	probably benign	Het
Lrp4	T	C	2: 91,332,345 (GRCm39)	S1681P	probably benign	Het
Lrp5	T	C	19: 3,678,316 (GRCm39)	E513G	probably benign	Het
Myh14	T	A	7: 44,305,035 (GRCm39)	N252I	probably damaging	Het
Naga	A	G	15: 82,219,048 (GRCm39)	V233A	probably benign	Het
Npc1	C	T	18: 12,352,408 (GRCm39)	C97Y	probably damaging	Het
Or4f15	T	G	2: 111,814,050 (GRCm39)	Y123S	probably damaging	Het
Or52n4	T	C	7: 104,294,517 (GRCm39)	I19V	probably benign	Het
Or56a3b	T	C	7: 104,771,116 (GRCm39)	F151L	probably benign	Het
Or9i2	C	A	19: 13,816,464 (GRCm39)	L24F	possibly damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Plag1	T	C	4: 3,903,815 (GRCm39)	T459A	probably benign	Het
Rnase9	T	C	14: 51,276,727 (GRCm39)	T84A	probably benign	Het
Rps6kb2	T	A	19: 4,208,671 (GRCm39)	I282F	probably benign	Het
Smg5	A	G	3: 88,258,816 (GRCm39)	T596A	probably benign	Het
Ugcg	T	C	4: 59,218,524 (GRCm39)	V256A	possibly damaging	Het
Vgll4	T	C	6: 114,898,299 (GRCm39)	I21V	probably benign	Het
Vipas39	T	A	12: 87,288,727 (GRCm39)	H426L	probably damaging	Het
Vmn1r224	A	G	17: 20,639,818 (GRCm39)	T132A	possibly damaging	Het
Zc3h18	A	G	8: 123,143,283 (GRCm39)		probably benign	Het
Zfp606	T	A	7: 12,228,043 (GRCm39)	N663K	probably damaging	Het
Zfp819	A	G	7: 43,266,120 (GRCm39)	H201R	probably benign	Het
Zfp946	T	A	17: 22,674,090 (GRCm39)	H281Q	probably benign	Het

Other mutations in Gm14326

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Gm14326	APN	2	177,587,491 (GRCm39)	missense	probably damaging	1.00
R3912:Gm14326	UTSW	2	177,587,658 (GRCm39)	missense	probably damaging	1.00
R7089:Gm14326	UTSW	2	177,588,464 (GRCm39)	missense	probably damaging	1.00
R7509:Gm14326	UTSW	2	177,587,493 (GRCm39)	missense	probably benign	0.17
R7526:Gm14326	UTSW	2	177,588,298 (GRCm39)	missense	probably damaging	1.00
R7682:Gm14326	UTSW	2	177,590,274 (GRCm39)	missense	probably damaging	0.96
R7923:Gm14326	UTSW	2	177,587,680 (GRCm39)	missense	probably damaging	1.00
R8356:Gm14326	UTSW	2	177,590,312 (GRCm39)	missense	probably benign	0.00
R8456:Gm14326	UTSW	2	177,590,312 (GRCm39)	missense	probably benign	0.00
R8543:Gm14326	UTSW	2	177,587,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCAACTACCCAAGGC -3'
(R):5'- CTGGGCTTGAAATCACTTCAG -3'

Sequencing Primer
(F):5'- AGGCACTGACCCTGGACAATG -3'
(R):5'- CACTTCAGAGACAAAGTTTTGGTTG -3'

Posted On

2017-07-14