Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Gbp4'

280509

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gbp4

Ensembl Gene

ENSMUSG00000079363

Gene Name

guanylate binding protein 4

Synonyms

Mpa2, Mag-2, Mpa-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

105115767-105139586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105121042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 415 (E415V)

Ref Sequence

ENSEMBL: ENSMUSP00000098522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000100961] [ENSMUST00000100962] [ENSMUST00000196204] [ENSMUST00000196677] [ENSMUST00000197799] [ENSMUST00000199629]

AlphaFold

A4UUI3

Predicted Effect

probably benign
Transcript: ENSMUST00000031235

SMART Domains

Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438

Domain	Start	End	E-Value	Type
Pfam:GBP	16	213	5.4e-91	PFAM
Pfam:GBP_C	206	493	1e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100961

SMART Domains

Protein: ENSMUSP00000098521
Gene: ENSMUSG00000029298

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	3.8e-124	PFAM
Pfam:GBP_C	281	575	4.5e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100962
AA Change: E415V

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: E415V

Domain	Start	End	E-Value	Type
Pfam:GBP	16	287	4.2e-91	PFAM
Pfam:GBP_C	289	583	4.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196204

SMART Domains

Protein: ENSMUSP00000142528
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	16	76	1e-19	PFAM
low complexity region	82	103	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196677

SMART Domains

Protein: ENSMUSP00000142795
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	1	149	3e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197799

SMART Domains

Protein: ENSMUSP00000142493
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	16	184	3.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199629

SMART Domains

Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363

Domain	Start	End	E-Value	Type
Pfam:GBP	1	127	1.5e-43	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Gbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Gbp4	APN	5	105137021	start codon destroyed	probably null	0.00
IGL01834:Gbp4	APN	5	105125602	missense	probably damaging	1.00
IGL02100:Gbp4	APN	5	105122075	unclassified	probably benign
IGL02364:Gbp4	APN	5	105136874	missense	probably damaging	1.00
IGL03026:Gbp4	APN	5	105120000	missense	possibly damaging	0.88
PIT4651001:Gbp4	UTSW	5	105118423	missense	probably benign	0.08
R0147:Gbp4	UTSW	5	105119496	missense	probably benign	0.17
R0148:Gbp4	UTSW	5	105119496	missense	probably benign	0.17
R0413:Gbp4	UTSW	5	105121106	missense	possibly damaging	0.85
R0415:Gbp4	UTSW	5	105121106	missense	possibly damaging	0.85
R0478:Gbp4	UTSW	5	105119433	missense	probably benign	0.01
R0546:Gbp4	UTSW	5	105120970	missense	probably damaging	1.00
R0638:Gbp4	UTSW	5	105121840	missense	probably damaging	0.98
R1528:Gbp4	UTSW	5	105121792	splice site	probably null
R1541:Gbp4	UTSW	5	105118409	missense	probably benign
R2099:Gbp4	UTSW	5	105121081	missense	probably damaging	1.00
R2112:Gbp4	UTSW	5	105135176	missense	possibly damaging	0.95
R2994:Gbp4	UTSW	5	105137020	start codon destroyed	probably null	0.86
R4021:Gbp4	UTSW	5	105120923	missense	probably damaging	0.96
R4258:Gbp4	UTSW	5	105136975	missense	probably damaging	1.00
R4489:Gbp4	UTSW	5	105121907	missense	probably damaging	1.00
R5164:Gbp4	UTSW	5	105136877	nonsense	probably null
R5195:Gbp4	UTSW	5	105119532	missense	probably benign	0.00
R5406:Gbp4	UTSW	5	105119521	missense	possibly damaging	0.76
R5550:Gbp4	UTSW	5	105122045	missense	probably damaging	1.00
R5701:Gbp4	UTSW	5	105118399	missense	possibly damaging	0.60
R5814:Gbp4	UTSW	5	105119919	missense	probably benign	0.27
R6128:Gbp4	UTSW	5	105135164	missense	possibly damaging	0.93
R6307:Gbp4	UTSW	5	105123109	nonsense	probably null
R6513:Gbp4	UTSW	5	105123120	missense	possibly damaging	0.69
R6870:Gbp4	UTSW	5	105125578	missense	probably damaging	1.00
R6938:Gbp4	UTSW	5	105135077	missense	probably damaging	0.99
R7063:Gbp4	UTSW	5	105118448	missense	probably damaging	0.96
R7124:Gbp4	UTSW	5	105119959	missense	possibly damaging	0.45
R7457:Gbp4	UTSW	5	105119553	missense	probably damaging	0.98
R7615:Gbp4	UTSW	5	105122982	missense	possibly damaging	0.95
R7877:Gbp4	UTSW	5	105118295	missense	probably benign	0.34
R7905:Gbp4	UTSW	5	105121087	missense	probably damaging	1.00
R8274:Gbp4	UTSW	5	105119472	missense	probably benign	0.01
R8377:Gbp4	UTSW	5	105118462	missense	probably benign	0.02
R8414:Gbp4	UTSW	5	105136837	missense	probably benign	0.05
R8423:Gbp4	UTSW	5	105119934	missense	probably damaging	1.00
R8979:Gbp4	UTSW	5	105119382	missense	probably benign	0.00
R9485:Gbp4	UTSW	5	105121930	missense	probably damaging	1.00
R9579:Gbp4	UTSW	5	105123081	missense	probably damaging	1.00
R9598:Gbp4	UTSW	5	105136874	missense	probably damaging	1.00
S24628:Gbp4	UTSW	5	105121106	missense	possibly damaging	0.85
X0067:Gbp4	UTSW	5	105125625	missense	probably damaging	0.98
Z1088:Gbp4	UTSW	5	105120997	missense	probably damaging	1.00
Z1177:Gbp4	UTSW	5	105119449	nonsense	probably null
Z1177:Gbp4	UTSW	5	105125135	missense	probably null	0.89

Posted On

2015-04-16