Mutagenetix > Incidental Mutation

Incidental Mutation 'R3828:Gm5862'

359667

Institutional Source

Beutler Lab

Gene Symbol

Gm5862

Ensembl Gene

ENSMUSG00000067700

Gene Name

predicted gene 5862

Synonyms

MMRRC Submission

040886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R3828 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

26017278-26022916 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26019347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 208 (H208P)

Ref Sequence

ENSEMBL: ENSMUSP00000072133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072286]

AlphaFold

K7N5V5

Predicted Effect

probably benign
Transcript: ENSMUST00000072286
AA Change: H208P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072133
Gene: ENSMUSG00000067700
AA Change: H208P

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.6e-25	PFAM
low complexity region	154	168	N/A	INTRINSIC
low complexity region	235	259	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Camk2b	A	G	11: 6,028,932	V32A	probably damaging	Het
Cbr2	A	T	11: 120,730,452	H140Q	probably benign	Het
Cdk19	T	C	10: 40,475,613	V258A	probably damaging	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Cxcr6	A	T	9: 123,810,869	M319L	probably benign	Het
Dlg5	T	A	14: 24,146,158	K1308I	probably damaging	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gm17521	C	A	X: 123,029,225	G149C	unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Ino80d	A	T	1: 63,062,078	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,426,012	P4595S	probably benign	Het
Mark4	A	G	7: 19,443,187	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,500,601	A2V	possibly damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Mrgprb5	T	A	7: 48,168,091	M299L	probably benign	Het
Ncapg2	A	T	12: 116,407,318		probably benign	Het
Olfr679	A	G	7: 105,086,297	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Syt14	T	C	1: 192,901,775	N444S	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnks	A	G	8: 34,873,178	F429L	probably damaging	Het
Usp15	T	A	10: 123,196,870	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500	I244T	probably benign	Het

Other mutations in Gm5862

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01606:Gm5862	APN	5	26019516	missense	probably benign
IGL01863:Gm5862	APN	5	26022771	missense	probably benign
IGL01868:Gm5862	APN	5	26022771	missense	probably benign
IGL01873:Gm5862	APN	5	26022771	missense	probably benign
IGL01881:Gm5862	APN	5	26022771	missense	probably benign
IGL01902:Gm5862	APN	5	26022771	missense	probably benign
IGL01905:Gm5862	APN	5	26022771	missense	probably benign
IGL01909:Gm5862	APN	5	26022771	missense	probably benign
IGL01917:Gm5862	APN	5	26022771	missense	probably benign
IGL01924:Gm5862	APN	5	26022771	missense	probably benign
IGL01927:Gm5862	APN	5	26022771	missense	probably benign
IGL01951:Gm5862	APN	5	26022771	missense	probably benign
IGL03374:Gm5862	APN	5	26019512	missense	probably damaging	0.98
R2475:Gm5862	UTSW	5	26019492	missense	probably damaging	1.00
R4591:Gm5862	UTSW	5	26019488	missense	possibly damaging	0.95
R6916:Gm5862	UTSW	5	26019348	missense	probably benign
R8291:Gm5862	UTSW	5	26019446	missense	probably benign	0.32
R8927:Gm5862	UTSW	5	26021680	missense	probably damaging	0.98
R8928:Gm5862	UTSW	5	26021680	missense	probably damaging	0.98
R9074:Gm5862	UTSW	5	26021626	missense	probably damaging	0.98
Z1176:Gm5862	UTSW	5	26018487	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCTAATTCAGAGTCTCACAAGAGG -3'
(R):5'- ACCATGCAGAGTGTGTTTCC -3'

Sequencing Primer
(F):5'- GAGTCTCACAAGAGGTTGACTTCC -3'
(R):5'- CCATGCAGAGTGTGTTTCCAGTAAC -3'

Posted On

2015-11-13