Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01717:Gm4978'

104972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4978

Ensembl Gene

ENSMUSG00000062874

Gene Name

predicted gene 4978

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

69357517-69358317 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 69358155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000134907]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034756

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART
ANX	207	259	8.2e-11	SMART
ANX	282	334	1.6e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000071565

SMART Domains

Protein: ENSMUSP00000071496
Gene: ENSMUSG00000062874

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	123	217	9.7e-26	PFAM
low complexity region	252	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123470

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134907

SMART Domains

Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	A	T	17: 35,390,531 (GRCm39)	M73K	probably damaging	Het
Alk	T	C	17: 72,910,377 (GRCm39)	I110V	probably benign	Het
Aoah	T	C	13: 21,184,147 (GRCm39)	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,808,763 (GRCm39)	S350P	possibly damaging	Het
Bltp1	A	G	3: 37,088,885 (GRCm39)	S4112G	probably benign	Het
Capn12	A	G	7: 28,588,530 (GRCm39)	D540G	probably benign	Het
Chd6	A	G	2: 160,807,179 (GRCm39)	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,841,603 (GRCm39)	T1284A	unknown	Het
Col24a1	T	C	3: 145,230,018 (GRCm39)		probably benign	Het
Col4a5	T	A	X: 140,422,234 (GRCm39)	V1070D	unknown	Het
Col6a5	T	C	9: 105,817,472 (GRCm39)	T280A	unknown	Het
Dicer1	A	T	12: 104,669,046 (GRCm39)	L1212*	probably null	Het
Gigyf1	T	A	5: 137,523,953 (GRCm39)	V1041E	probably damaging	Het
Gnai1	A	G	5: 18,496,459 (GRCm39)		probably null	Het
Golgb1	C	T	16: 36,735,864 (GRCm39)	R1704*	probably null	Het
Incenp	A	G	19: 9,870,629 (GRCm39)		probably benign	Het
Lrrc39	A	T	3: 116,373,146 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,017,113 (GRCm39)	K319E	probably damaging	Het
Neb	T	C	2: 52,079,879 (GRCm39)	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,418,938 (GRCm39)	I732T	probably damaging	Het
Pacs1	T	A	19: 5,218,000 (GRCm39)	K130N	probably damaging	Het
Pappa2	A	G	1: 158,684,702 (GRCm39)		probably null	Het
Pole2	T	C	12: 69,260,623 (GRCm39)	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,997,140 (GRCm39)		probably benign	Het
Sel1l3	A	G	5: 53,357,510 (GRCm39)	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,640,526 (GRCm39)	Q446*	probably null	Het
Slc26a3	T	C	12: 31,513,476 (GRCm39)	I466T	probably benign	Het
Slc29a4	A	T	5: 142,704,501 (GRCm39)	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,247,335 (GRCm39)		probably benign	Het
Tlr5	A	T	1: 182,802,963 (GRCm39)	I756F	probably damaging	Het
Ttn	A	T	2: 76,560,748 (GRCm39)	L29218I	probably damaging	Het
Ttn	T	A	2: 76,560,746 (GRCm39)	L29218F	probably damaging	Het

Other mutations in Gm4978

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02549:Gm4978	APN	9	69,357,641 (GRCm39)	unclassified	probably benign
IGL02661:Gm4978	APN	9	69,358,180 (GRCm39)	unclassified	probably benign
R4940:Gm4978	UTSW	9	69,358,154 (GRCm39)	unclassified	probably benign
Y5404:Gm4978	UTSW	9	69,357,984 (GRCm39)	unclassified	probably benign
Y5407:Gm4978	UTSW	9	69,357,984 (GRCm39)	unclassified	probably benign

Posted On

2014-01-21