Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Gm4070'

74113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4070

Ensembl Gene

ENSMUSG00000078606

Gene Name

predicted gene 4070

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

105895139-105953967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105896802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2348 (S2348P)

Ref Sequence

ENSEMBL: ENSMUSP00000135898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106766] [ENSMUST00000176467]

AlphaFold

Q80SU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106766
AA Change: S2348P

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102377
Gene: ENSMUSG00000078606
AA Change: S2348P

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176467
AA Change: S2348P

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135898
Gene: ENSMUSG00000078606
AA Change: S2348P

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176647

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,871,495	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,968,388	S108P	probably benign	Het
B3gat1	T	C	9: 26,755,910	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,915,546	S45N	probably benign	Het
Birc6	C	T	17: 74,622,925	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,609,260	D67G	possibly damaging	Het
Cand2	A	G	6: 115,785,125	T171A	probably benign	Het
Ccdc77	T	C	6: 120,334,796	Q247R	probably benign	Het
Cenpp	A	T	13: 49,647,642	V100D	probably damaging	Het
Cep135	A	G	5: 76,591,765	T3A	probably benign	Het
Eef2k	T	C	7: 120,884,815		probably benign	Het
Fga	T	C	3: 83,030,211	S132P	probably damaging	Het
Gpr6	T	A	10: 41,071,559	N9I	possibly damaging	Het
Hacd3	A	G	9: 64,998,305	F184L	probably damaging	Het
Heatr1	T	C	13: 12,398,938	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,352,037		probably benign	Het
Ighv8-6	T	C	12: 115,165,857	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,146,390		probably benign	Het
Jade2	T	C	11: 51,825,338	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,298,442	T419A	probably benign	Het
Krt34	A	G	11: 100,038,780	S267P	possibly damaging	Het
Krt4	T	G	15: 101,920,281	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,865,564	E42D	probably benign	Het
Morc2b	A	G	17: 33,137,319	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,541,447	S557R	probably damaging	Het
Nup43	T	A	10: 7,669,556	F83I	probably benign	Het
Olfr107	G	T	17: 37,406,140	M197I	probably benign	Het
Oosp2	A	G	19: 11,647,461	L155S	probably damaging	Het
Plxnd1	T	A	6: 115,966,799	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,042,724	F79I	possibly damaging	Het
Prph	G	A	15: 99,058,636	S465N	possibly damaging	Het
Purg	A	T	8: 33,386,603	I90L	probably damaging	Het
Pxdn	C	A	12: 29,987,137	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,216,543	S816N	probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tmem201	G	A	4: 149,719,588		probably benign	Het
Tnfrsf22	G	A	7: 143,643,374	P76L	probably damaging	Het
Triml1	T	C	8: 43,138,563		probably null	Het
Upp1	A	G	11: 9,136,100	*312W	probably null	Het
Wdfy3	G	T	5: 101,895,064	S1940R	probably damaging	Het
Xpc	T	C	6: 91,492,353	Y804C	probably damaging	Het
Xrn2	C	T	2: 147,034,847		probably benign	Het
Zfp106	A	T	2: 120,524,464	D1275E	possibly damaging	Het

Other mutations in Gm4070

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02657:Gm4070	APN	7	105,896,765 (GRCm38)	missense	probably damaging	1.00
R0755:Gm4070	UTSW	7	105,896,685 (GRCm38)	missense	possibly damaging	0.81
R6913:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6914:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6921:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6941:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6943:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6944:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R6945:Gm4070	UTSW	7	105,901,980 (GRCm38)	nonsense	probably null
R7208:Gm4070	UTSW	7	105,902,179 (GRCm38)	missense	possibly damaging	0.58
R7400:Gm4070	UTSW	7	105,902,040 (GRCm38)	missense	probably benign
R8477:Gm4070	UTSW	7	105,898,926 (GRCm38)	missense	possibly damaging	0.66
R8493:Gm4070	UTSW	7	105,898,881 (GRCm38)	missense	probably benign	0.09
R8880:Gm4070	UTSW	7	105,901,913 (GRCm38)	missense	probably benign	0.00
R9176:Gm4070	UTSW	7	105,902,055 (GRCm38)	missense	possibly damaging	0.93

Posted On

2013-10-07