Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Gm43638'

84554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm43638

Ensembl Gene

ENSMUSG00000107180

Gene Name

predicted gene 43638

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

87460240-87486806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87486215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 178 (S178T)

Ref Sequence

ENSEMBL: ENSMUSP00000143986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079811

SMART Domains

Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:UDPGT	22	525	3.5e-233	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144144

SMART Domains

Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	277	2.3e-168	PFAM
Pfam:Glyco_tran_28_C	100	203	7.4e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147854
AA Change: S178T

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: S178T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	525	1.2e-235	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201519
AA Change: S178T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: S178T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	240	2.3e-54	PFAM
Pfam:UDPGT	236	499	2.9e-75	PFAM
Pfam:UDPGT	498	691	2.6e-116	PFAM
Pfam:Glyco_tran_28_C	512	618	3.1e-6	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably damaging	Het

Other mutations in Gm43638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Gm43638	APN	5	87460399	missense	probably damaging	0.98
IGL01015:Gm43638	APN	5	87486614	nonsense	probably null
IGL01081:Gm43638	APN	5	87486596	missense	probably damaging	1.00
IGL01296:Gm43638	APN	5	87460592	missense	probably benign	0.22
IGL01767:Gm43638	APN	5	87465431	missense	probably damaging	1.00
IGL02412:Gm43638	APN	5	87486136	missense	possibly damaging	0.95
IGL02684:Gm43638	APN	5	87462910	missense	possibly damaging	0.51
IGL03343:Gm43638	APN	5	87460625	missense	possibly damaging	0.85
R0233:Gm43638	UTSW	5	87475001	missense	probably damaging	1.00

Posted On

2013-11-11