Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00898:Gm4952'

29484

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4952

Ensembl Gene

ENSMUSG00000071633

Gene Name

predicted gene 4952

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL00898

Quality Score

Status

Chromosome

Chromosomal Location

12577348-12604980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12595772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 54 (T54I)

Ref Sequence

ENSEMBL: ENSMUSP00000137934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]

AlphaFold

Q5FW57

Predicted Effect

probably damaging
Transcript: ENSMUST00000092931
AA Change: T54I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: T54I

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	2.6e-90	PFAM
Pfam:Gly_acyl_tr_C	207	295	2.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000181868
AA Change: T54I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: T54I

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	3.7e-112	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,783,690 (GRCm39)	G956S	probably damaging	Het
Alpk2	G	T	18: 65,483,644 (GRCm39)	D121E	probably benign	Het
Apc	A	G	18: 34,450,147 (GRCm39)	T2314A	probably damaging	Het
Arhgef11	T	C	3: 87,636,810 (GRCm39)	L990P	probably damaging	Het
Ccar1	T	A	10: 62,589,013 (GRCm39)	K823N	unknown	Het
Celsr2	C	T	3: 108,321,195 (GRCm39)	R539H	possibly damaging	Het
Clca3b	A	G	3: 144,550,389 (GRCm39)		probably benign	Het
Cpxcr1	T	C	X: 115,387,407 (GRCm39)	L106S	possibly damaging	Het
Edc4	T	A	8: 106,607,755 (GRCm39)	L16Q	probably damaging	Het
Emc1	A	G	4: 139,098,941 (GRCm39)	E808G	probably damaging	Het
Epha6	A	T	16: 59,595,904 (GRCm39)		probably null	Het
Epha7	G	A	4: 28,938,693 (GRCm39)	R516Q	probably damaging	Het
Fancm	T	C	12: 65,152,774 (GRCm39)	S1077P	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Il1b	T	C	2: 129,209,253 (GRCm39)	R126G	possibly damaging	Het
Kin	G	A	2: 10,085,515 (GRCm39)	R25H	probably damaging	Het
Kin	T	C	2: 10,085,517 (GRCm39)	W26R	probably damaging	Het
Lamb3	A	T	1: 193,021,191 (GRCm39)	T923S	possibly damaging	Het
Lrp6	C	T	6: 134,456,702 (GRCm39)	S854N	probably damaging	Het
Ltv1	A	G	10: 13,058,031 (GRCm39)	F258L	probably damaging	Het
Mcm3ap	T	C	10: 76,306,159 (GRCm39)	S91P	probably benign	Het
Msra	A	G	14: 64,360,774 (GRCm39)	I125T	probably damaging	Het
Nr0b1	A	T	X: 85,236,077 (GRCm39)	Q224L	probably benign	Het
Nr2e1	T	A	10: 42,444,449 (GRCm39)	D220V	probably damaging	Het
Nup160	C	A	2: 90,523,450 (GRCm39)	H351Q	probably damaging	Het
Or5b96	T	A	19: 12,867,282 (GRCm39)	M220L	probably benign	Het
Pcdh12	C	A	18: 38,414,510 (GRCm39)	V872L	probably benign	Het
Pcnx2	T	A	8: 126,614,324 (GRCm39)	S376C	probably damaging	Het
Pkd2	A	G	5: 104,631,001 (GRCm39)	E475G	probably damaging	Het
Psg22	A	G	7: 18,458,392 (GRCm39)	Y322C	probably damaging	Het
Rgl2	T	C	17: 34,152,392 (GRCm39)	I363T	possibly damaging	Het
Rimklb	G	T	6: 122,433,590 (GRCm39)	Q187K	possibly damaging	Het
Sectm1b	A	T	11: 120,947,075 (GRCm39)	W17R	probably damaging	Het
Snu13	C	A	15: 81,926,516 (GRCm39)	A60S	probably benign	Het
Sox30	T	A	11: 45,882,727 (GRCm39)	F586I	possibly damaging	Het
Tnfsfm13	C	A	11: 69,575,127 (GRCm39)	V220L	probably benign	Het
Ttn	A	T	2: 76,593,117 (GRCm39)	V20711E	probably damaging	Het
Vmn2r116	A	G	17: 23,604,969 (GRCm39)	N94S	possibly damaging	Het
Yipf2	T	C	9: 21,503,820 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,765,999 (GRCm39)	S1509P	probably benign	Het

Other mutations in Gm4952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm4952	APN	19	12,600,987 (GRCm39)	missense	probably damaging	1.00
IGL01542:Gm4952	APN	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
IGL01714:Gm4952	APN	19	12,602,075 (GRCm39)	missense	probably benign	0.16
IGL02339:Gm4952	APN	19	12,604,275 (GRCm39)	missense	probably damaging	0.98
IGL03068:Gm4952	APN	19	12,601,068 (GRCm39)	missense	probably damaging	0.99
IGL03100:Gm4952	APN	19	12,602,083 (GRCm39)	critical splice donor site	probably null
IGL03274:Gm4952	APN	19	12,600,960 (GRCm39)	splice site	probably benign
IGL03295:Gm4952	APN	19	12,595,691 (GRCm39)	missense	probably benign	0.39
PIT4520001:Gm4952	UTSW	19	12,602,048 (GRCm39)	missense	probably benign	0.12
R0604:Gm4952	UTSW	19	12,602,036 (GRCm39)	missense	probably benign	0.07
R1221:Gm4952	UTSW	19	12,601,059 (GRCm39)	missense	possibly damaging	0.51
R1513:Gm4952	UTSW	19	12,602,039 (GRCm39)	missense	probably damaging	0.99
R1514:Gm4952	UTSW	19	12,604,278 (GRCm39)	missense	probably damaging	1.00
R1804:Gm4952	UTSW	19	12,595,784 (GRCm39)	missense	probably damaging	0.98
R1928:Gm4952	UTSW	19	12,600,973 (GRCm39)	missense	probably damaging	0.99
R2447:Gm4952	UTSW	19	12,595,770 (GRCm39)	missense	possibly damaging	0.70
R4930:Gm4952	UTSW	19	12,604,376 (GRCm39)	missense	probably benign	0.00
R5360:Gm4952	UTSW	19	12,600,993 (GRCm39)	missense	probably benign	0.08
R5704:Gm4952	UTSW	19	12,604,275 (GRCm39)	missense	probably damaging	1.00
R7143:Gm4952	UTSW	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
R7332:Gm4952	UTSW	19	12,604,373 (GRCm39)	missense	probably damaging	1.00
R7420:Gm4952	UTSW	19	12,604,265 (GRCm39)	missense	probably damaging	1.00
R7702:Gm4952	UTSW	19	12,604,428 (GRCm39)	missense	probably benign	0.00
R9573:Gm4952	UTSW	19	12,604,090 (GRCm39)	missense	probably benign	0.01

Posted On

2013-04-17