Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Gm5916'

279813

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5916

Ensembl Gene

ENSMUSG00000091411

Gene Name

predicted gene 5916

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

36031230-36040075 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36039970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 6 (L6P)

Ref Sequence

ENSEMBL: ENSMUSP00000125855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168452]

AlphaFold

G5E8W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000168452
AA Change: L6P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125855
Gene: ENSMUSG00000091411
AA Change: L6P

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,659,138 (GRCm39)	T206M	probably benign	Het
Adcy3	T	A	12: 4,184,390 (GRCm39)	V22D	possibly damaging	Het
Alb	G	A	5: 90,611,990 (GRCm39)	E140K	probably benign	Het
Aph1a	G	A	3: 95,803,125 (GRCm39)	V193I	probably damaging	Het
Asb2	G	A	12: 103,299,755 (GRCm39)	R178*	probably null	Het
Celf3	A	T	3: 94,394,108 (GRCm39)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,228,635 (GRCm39)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,079,625 (GRCm39)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,194,414 (GRCm39)	L1709R	probably damaging	Het
Dst	T	C	1: 34,229,199 (GRCm39)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,450,130 (GRCm39)	N149I	probably benign	Het
Fancm	A	G	12: 65,142,558 (GRCm39)	D472G	probably benign	Het
Fasn	T	C	11: 120,702,762 (GRCm39)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,180,122 (GRCm39)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,943,348 (GRCm39)	T747K	probably damaging	Het
Fer	A	G	17: 64,445,923 (GRCm39)	M795V	probably benign	Het
Gpr139	A	G	7: 118,744,355 (GRCm39)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 26,395,976 (GRCm39)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 151,031,762 (GRCm39)	F408L	probably damaging	Het
Kel	A	G	6: 41,679,323 (GRCm39)	S147P	probably benign	Het
Klra5	A	T	6: 129,888,307 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Med18	A	T	4: 132,186,977 (GRCm39)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,502,007 (GRCm39)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,345,795 (GRCm39)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,517,564 (GRCm39)	E102*	probably null	Het
Or14j1	A	G	17: 38,146,169 (GRCm39)	Q93R	possibly damaging	Het
Or3a1	A	G	11: 74,225,862 (GRCm39)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,727,005 (GRCm39)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,613,161 (GRCm39)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,667,768 (GRCm39)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,637,282 (GRCm39)		probably null	Het
Pla2g4a	A	T	1: 149,776,950 (GRCm39)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,059,501 (GRCm39)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,290,540 (GRCm39)	W539*	probably null	Het
Rae1	G	A	2: 172,845,306 (GRCm39)	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563 (GRCm39)	F512I	probably damaging	Het
Rfx6	A	G	10: 51,602,952 (GRCm39)	D823G	possibly damaging	Het
Samt3	A	T	X: 85,090,759 (GRCm39)	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,605,438 (GRCm39)	N134S	probably null	Het
Selenoo	T	C	15: 88,984,173 (GRCm39)	V663A	probably damaging	Het
Sp4	G	T	12: 118,263,284 (GRCm39)	T254N	probably damaging	Het
Spdya	A	G	17: 71,885,242 (GRCm39)	K232R	probably benign	Het
Stom	A	T	2: 35,210,401 (GRCm39)	V201E	probably benign	Het
Sycp3	A	G	10: 88,302,334 (GRCm39)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,000,425 (GRCm39)		probably benign	Het
Vmn1r226	T	C	17: 20,907,926 (GRCm39)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,372,349 (GRCm39)	G47D	probably damaging	Het
Vwf	T	G	6: 125,623,318 (GRCm39)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,037,687 (GRCm39)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,335,546 (GRCm39)	D1761V	probably damaging	Het

Other mutations in Gm5916

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01145:Gm5916	APN	9	36,031,998 (GRCm39)	missense	unknown
IGL02665:Gm5916	APN	9	36,039,962 (GRCm39)	missense	possibly damaging	0.66
R5071:Gm5916	UTSW	9	36,039,964 (GRCm39)	missense	probably benign	0.00
R5347:Gm5916	UTSW	9	36,032,012 (GRCm39)	missense	probably benign	0.03
R6996:Gm5916	UTSW	9	36,039,935 (GRCm39)	missense	probably benign	0.14
R7213:Gm5916	UTSW	9	36,039,946 (GRCm39)	missense	possibly damaging	0.95
R7256:Gm5916	UTSW	9	36,032,285 (GRCm39)	missense	possibly damaging	0.78
R7890:Gm5916	UTSW	9	36,032,291 (GRCm39)	missense	possibly damaging	0.92
R8987:Gm5916	UTSW	9	36,032,286 (GRCm39)	missense	probably benign	0.16
R9112:Gm5916	UTSW	9	36,032,258 (GRCm39)	missense	probably damaging	0.98
R9140:Gm5916	UTSW	9	36,031,982 (GRCm39)	missense	unknown
R9187:Gm5916	UTSW	9	36,032,020 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16