Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Gm5724'

92267

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5724

Ensembl Gene

ENSMUSG00000084927

Gene Name

predicted gene 5724

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

141708118-141773810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141713214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 552 (T552K)

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148411]

AlphaFold

L7N264

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148411
AA Change: T552K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: T552K

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	405	3.4e-26	PFAM
KAZAL	438	484	1.71e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158240

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Gm5724

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Gm5724	APN	6	141754429	missense	probably benign	0.14
IGL01347:Gm5724	APN	6	141754466	nonsense	probably null
IGL01539:Gm5724	APN	6	141727607	missense	possibly damaging	0.88
IGL02060:Gm5724	APN	6	141754408	missense	probably benign	0.00
IGL02063:Gm5724	APN	6	141738889	missense	probably benign	0.01
IGL02126:Gm5724	APN	6	141739013	missense	probably benign	0.29
IGL02214:Gm5724	APN	6	141723185	missense	possibly damaging	0.50
IGL02630:Gm5724	APN	6	141723110	missense	probably damaging	1.00
R0966:Gm5724	UTSW	6	141727573	missense	probably benign	0.00
R1082:Gm5724	UTSW	6	141712133	missense	probably damaging	1.00
R1433:Gm5724	UTSW	6	141765703	missense	probably benign	0.00
R1571:Gm5724	UTSW	6	141754409	nonsense	probably null
R1765:Gm5724	UTSW	6	141754358	splice site	probably benign
R2055:Gm5724	UTSW	6	141725455	missense	probably benign	0.33
R2174:Gm5724	UTSW	6	141727593	nonsense	probably null
R2495:Gm5724	UTSW	6	141765777	missense	probably benign	0.02
R2857:Gm5724	UTSW	6	141744538	missense	probably benign	0.35
R3551:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R3824:Gm5724	UTSW	6	141754374	missense	possibly damaging	0.50
R3912:Gm5724	UTSW	6	141727636	missense	probably damaging	0.97
R3942:Gm5724	UTSW	6	141727714	missense	probably damaging	0.98
R4161:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R4168:Gm5724	UTSW	6	141738947	missense	probably benign	0.03
R4395:Gm5724	UTSW	6	141712118	missense	probably benign	0.02
R4720:Gm5724	UTSW	6	141723222	missense	probably damaging	1.00
R4732:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R4733:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R4794:Gm5724	UTSW	6	141767562	missense	probably benign	0.11
R5062:Gm5724	UTSW	6	141767454	missense	possibly damaging	0.46
R5389:Gm5724	UTSW	6	141740467	missense	probably benign	0.12
R5419:Gm5724	UTSW	6	141736100	splice site	probably null
R5423:Gm5724	UTSW	6	141744462	missense	probably damaging	1.00
R5704:Gm5724	UTSW	6	141713254	missense	probably benign	0.00
R5973:Gm5724	UTSW	6	141754456	missense	probably benign	0.01
R6041:Gm5724	UTSW	6	141739038	missense	probably benign	0.11
R6284:Gm5724	UTSW	6	141725393	missense	probably damaging	1.00
R6395:Gm5724	UTSW	6	141723092	splice site	probably null
R6993:Gm5724	UTSW	6	141765742	missense	possibly damaging	0.94
R7149:Gm5724	UTSW	6	141744452	missense	probably damaging	1.00
R7159:Gm5724	UTSW	6	141773778	start codon destroyed	probably damaging	1.00
R7627:Gm5724	UTSW	6	141744545	missense	probably damaging	1.00
R7784:Gm5724	UTSW	6	141713193	critical splice donor site	probably null
R7873:Gm5724	UTSW	6	141727722	missense	probably benign	0.44
R8670:Gm5724	UTSW	6	141765742	missense	possibly damaging	0.94
R8720:Gm5724	UTSW	6	141723126	missense	probably benign	0.01
R9124:Gm5724	UTSW	6	141723104	missense	possibly damaging	0.81
R9238:Gm5724	UTSW	6	141740427	missense	probably damaging	0.98
R9381:Gm5724	UTSW	6	141765764	missense	probably benign	0.00
X0020:Gm5724	UTSW	6	141754365	missense	probably benign	0.00

Posted On

2013-12-09