Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03100:Gm4952'

418714

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: 0.065) question?

Stock #

IGL03100

Quality Score

Status

Chromosome

Chromosomal Location

12577348-12604980 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 12602083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137934 (fasta)

Gene Model

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

AlphaFold

Q5FW57

Predicted Effect

probably null
Transcript: ENSMUST00000092931

SMART Domains

Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633

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 null
Transcript: ENSMUST00000181868

SMART Domains

Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,208,527 (GRCm39)	R233S	probably benign	Het
Abcc9	A	T	6: 142,640,270 (GRCm39)	W73R	probably damaging	Het
Ago1	A	G	4: 126,336,964 (GRCm39)	V247A	probably benign	Het
Anpep	T	A	7: 79,486,109 (GRCm39)	T538S	probably benign	Het
Asb14	A	G	14: 26,625,329 (GRCm39)	K228R	probably benign	Het
Atp6v0d2	C	T	4: 19,910,586 (GRCm39)		probably null	Het
B3gat2	A	T	1: 23,802,272 (GRCm39)	D186V	probably damaging	Het
Bmpr1a	A	T	14: 34,163,164 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,732,175 (GRCm39)	D224G	probably damaging	Het
Cd6	T	C	19: 10,770,303 (GRCm39)	M463V	probably benign	Het
Clasp1	T	C	1: 118,395,626 (GRCm39)	I188T	possibly damaging	Het
Cldn17	G	T	16: 88,303,489 (GRCm39)	A80E	probably damaging	Het
Clptm1l	A	G	13: 73,760,509 (GRCm39)		probably benign	Het
Col6a5	A	T	9: 105,814,512 (GRCm39)	V500E	unknown	Het
Ctdspl2	C	T	2: 121,809,394 (GRCm39)	T115I	probably benign	Het
Dbh	G	T	2: 27,055,534 (GRCm39)	A3S	probably benign	Het
Fgd4	A	G	16: 16,295,383 (GRCm39)		probably benign	Het
Grik4	A	G	9: 42,461,751 (GRCm39)	M551T	probably damaging	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Hkdc1	T	C	10: 62,253,608 (GRCm39)	T58A	probably benign	Het
Kcnh2	T	C	5: 24,527,682 (GRCm39)	K890R	probably damaging	Het
Kif24	T	C	4: 41,394,446 (GRCm39)	H809R	possibly damaging	Het
Knl1	A	G	2: 118,931,251 (GRCm39)	E1989G	probably damaging	Het
Muc15	A	G	2: 110,561,939 (GRCm39)	D125G	probably damaging	Het
Ogdhl	A	T	14: 32,064,029 (GRCm39)	M632L	probably benign	Het
Prkdc	T	C	16: 15,531,499 (GRCm39)	I1374T	probably benign	Het
Psmd1	T	A	1: 86,046,243 (GRCm39)	N670K	possibly damaging	Het
Ryr1	T	C	7: 28,804,018 (GRCm39)	H590R	probably damaging	Het
Scara3	A	C	14: 66,168,722 (GRCm39)	H298Q	probably damaging	Het
Sirt3	T	C	7: 140,445,030 (GRCm39)	D256G	probably damaging	Het
Slc13a2	T	C	11: 78,295,299 (GRCm39)	Q158R	probably damaging	Het
Slco5a1	T	A	1: 12,949,504 (GRCm39)	T629S	possibly damaging	Het
Speer4f2	A	G	5: 17,581,528 (GRCm39)	K157E	probably damaging	Het
Srsf1	T	A	11: 87,939,954 (GRCm39)	D155E	probably damaging	Het
Tln2	C	T	9: 67,203,019 (GRCm39)	R534H	probably damaging	Het
Ttn	A	G	2: 76,591,992 (GRCm39)		probably benign	Het
Ube2m	A	G	7: 12,771,562 (GRCm39)	L32P	probably benign	Het
Wdr24	T	A	17: 26,044,681 (GRCm39)	F179I	possibly damaging	Het
Zfp961	T	C	8: 72,721,754 (GRCm39)	*69Q	probably null	Het

Other mutations in Gm4952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Gm4952	APN	19	12,595,772 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02