Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4651001:Gbp4'

556653

Institutional Source

Beutler Lab

Gene Symbol

Gbp4

Ensembl Gene

ENSMUSG00000079363

Gene Name

guanylate binding protein 4

Synonyms

Mpa2, Mpa-2, Mag-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105263633-105287452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105266289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 584 (H584L)

Ref Sequence

ENSEMBL: ENSMUSP00000098522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000100961] [ENSMUST00000100962] [ENSMUST00000196204] [ENSMUST00000196677] [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: H584L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098522
Gene: ENSMUSG00000079363
AA Change: H584L

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: ENSMUST00000199629

SMART Domains

Protein: ENSMUSP00000143689
Gene: ENSMUSG00000079363

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

Coding Region Coverage

1x: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,408,014 (GRCm39)	I428L	probably benign	Het
Aass	T	C	6: 23,118,750 (GRCm39)	I131V	probably benign	Het
Alcam	T	A	16: 52,115,550 (GRCm39)	K189N	probably benign	Het
Ankrd50	C	A	3: 38,509,959 (GRCm39)	E803*	probably null	Het
Ankrd53	A	G	6: 83,742,715 (GRCm39)	D236G	probably damaging	Het
Bard1	A	G	1: 71,114,087 (GRCm39)	V298A	probably benign	Het
Cacna1d	C	T	14: 29,900,602 (GRCm39)	G361D	probably damaging	Het
Camkk1	A	G	11: 72,916,647 (GRCm39)	S82G	probably benign	Het
Ccr4	A	T	9: 114,321,261 (GRCm39)	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,805 (GRCm39)	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,941,711 (GRCm39)	A254E	probably benign	Het
Cfap46	T	C	7: 139,225,467 (GRCm39)	T1078A		Het
Cyp46a1	A	G	12: 108,319,367 (GRCm39)	D288G	probably benign	Het
Dnah6	T	C	6: 73,037,243 (GRCm39)	N3333S	probably benign	Het
Dzip3	A	G	16: 48,765,241 (GRCm39)	V491A	probably benign	Het
Egr1	G	T	18: 34,996,240 (GRCm39)	E341*	probably null	Het
Enpp1	G	A	10: 24,529,848 (GRCm39)	P597S	probably benign	Het
Ercc3	A	T	18: 32,373,365 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,205,909 (GRCm39)		probably null	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fhip1a	C	T	3: 85,590,948 (GRCm39)	A389T	probably damaging	Het
Gbf1	A	G	19: 46,151,982 (GRCm39)	N5S	probably benign	Het
Gcgr	G	T	11: 120,428,968 (GRCm39)	C402F	probably damaging	Het
Grm7	T	A	6: 110,623,050 (GRCm39)	N74K	probably benign	Het
H1f9	A	G	11: 94,859,142 (GRCm39)	S146G	probably benign	Het
Hoxa10	T	G	6: 52,211,877 (GRCm39)	N13T	possibly damaging	Het
Ice1	A	T	13: 70,772,040 (GRCm39)		probably null	Het
Il22	C	A	10: 118,041,495 (GRCm39)	N69K	probably damaging	Het
Il9r	A	T	11: 32,141,798 (GRCm39)	H319Q	probably benign	Het
Itgax	A	G	7: 127,748,282 (GRCm39)	T1104A	probably benign	Het
Jag1	C	T	2: 136,943,617 (GRCm39)	G193D	probably damaging	Het
Krt13	T	A	11: 100,010,862 (GRCm39)	D164V	probably damaging	Het
Lepr	T	C	4: 101,649,194 (GRCm39)	M865T	probably damaging	Het
Lmf2	G	A	15: 89,236,272 (GRCm39)	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,756,189 (GRCm39)	H655Y	probably benign	Het
Mapk6	A	T	9: 75,304,869 (GRCm39)	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,144,832 (GRCm39)	Y261N	probably damaging	Het
Mon1b	G	A	8: 114,365,254 (GRCm39)	G194D	probably benign	Het
Myo18b	C	T	5: 112,982,301 (GRCm39)	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,795,456 (GRCm39)	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,253,657 (GRCm39)	I15T	probably benign	Het
Nhsl1	T	G	10: 18,284,183 (GRCm39)	S41R	probably damaging	Het
Numa1	A	T	7: 101,663,141 (GRCm39)	K2089M	probably damaging	Het
Obi1	T	A	14: 104,743,692 (GRCm39)	D129V	probably damaging	Het
Obscn	A	G	11: 58,932,507 (GRCm39)	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,258,925 (GRCm39)	L391Q	probably benign	Het
Or10g9b	A	T	9: 39,917,526 (GRCm39)	C240S	probably damaging	Het
Or2ag1	A	G	7: 106,472,730 (GRCm39)	C241R	probably damaging	Het
Or5b106	T	A	19: 13,123,991 (GRCm39)	I11F	probably benign	Het
Or5b111	A	G	19: 13,291,556 (GRCm39)	I31T	probably benign	Het
Or5m9	T	C	2: 85,876,862 (GRCm39)	L12P	probably damaging	Het
Parn	T	A	16: 13,449,431 (GRCm39)	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,905,812 (GRCm39)	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,620,195 (GRCm39)	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715 (GRCm39)	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,951,048 (GRCm39)	A270V	probably benign	Het
Pnpt1	T	C	11: 29,106,945 (GRCm39)		probably null	Het
Prkn	T	A	17: 11,286,130 (GRCm39)	L41Q	probably damaging	Het
Rc3h1	C	A	1: 160,791,110 (GRCm39)	N931K	probably benign	Het
Rlf	A	G	4: 121,007,510 (GRCm39)	V600A	probably damaging	Het
Rpl27rt	A	T	18: 34,870,892 (GRCm39)	Q142L	unknown	Het
Sall1	T	G	8: 89,757,731 (GRCm39)	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,899,731 (GRCm39)	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,351,170 (GRCm39)	M319L	probably benign	Het
Trim24	T	C	6: 37,877,667 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,719,278 (GRCm39)	T7234S	unknown	Het
Unc13c	T	A	9: 73,391,021 (GRCm39)	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,340,095 (GRCm39)	R667*	probably null	Het
Uvrag	A	G	7: 98,555,727 (GRCm39)	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,260,530 (GRCm39)	V190A	probably damaging	Het
Vmn2r50	T	A	7: 9,771,659 (GRCm39)	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,595,461 (GRCm39)	T408S	probably benign	Het
Vps33b	A	G	7: 79,939,755 (GRCm39)	D502G	probably damaging	Het

Other mutations in Gbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Gbp4	APN	5	105,284,887 (GRCm39)	start codon destroyed	probably null	0.00
IGL01834:Gbp4	APN	5	105,273,468 (GRCm39)	missense	probably damaging	1.00
IGL02100:Gbp4	APN	5	105,269,941 (GRCm39)	unclassified	probably benign
IGL02119:Gbp4	APN	5	105,268,908 (GRCm39)	missense	probably benign	0.14
IGL02364:Gbp4	APN	5	105,284,740 (GRCm39)	missense	probably damaging	1.00
IGL03026:Gbp4	APN	5	105,267,866 (GRCm39)	missense	possibly damaging	0.88
R0147:Gbp4	UTSW	5	105,267,362 (GRCm39)	missense	probably benign	0.17
R0148:Gbp4	UTSW	5	105,267,362 (GRCm39)	missense	probably benign	0.17
R0413:Gbp4	UTSW	5	105,268,972 (GRCm39)	missense	possibly damaging	0.85
R0415:Gbp4	UTSW	5	105,268,972 (GRCm39)	missense	possibly damaging	0.85
R0478:Gbp4	UTSW	5	105,267,299 (GRCm39)	missense	probably benign	0.01
R0546:Gbp4	UTSW	5	105,268,836 (GRCm39)	missense	probably damaging	1.00
R0638:Gbp4	UTSW	5	105,269,706 (GRCm39)	missense	probably damaging	0.98
R1528:Gbp4	UTSW	5	105,269,658 (GRCm39)	splice site	probably null
R1541:Gbp4	UTSW	5	105,266,275 (GRCm39)	missense	probably benign
R2099:Gbp4	UTSW	5	105,268,947 (GRCm39)	missense	probably damaging	1.00
R2112:Gbp4	UTSW	5	105,283,042 (GRCm39)	missense	possibly damaging	0.95
R2994:Gbp4	UTSW	5	105,284,886 (GRCm39)	start codon destroyed	probably null	0.86
R4021:Gbp4	UTSW	5	105,268,789 (GRCm39)	missense	probably damaging	0.96
R4258:Gbp4	UTSW	5	105,284,841 (GRCm39)	missense	probably damaging	1.00
R4489:Gbp4	UTSW	5	105,269,773 (GRCm39)	missense	probably damaging	1.00
R5164:Gbp4	UTSW	5	105,284,743 (GRCm39)	nonsense	probably null
R5195:Gbp4	UTSW	5	105,267,398 (GRCm39)	missense	probably benign	0.00
R5406:Gbp4	UTSW	5	105,267,387 (GRCm39)	missense	possibly damaging	0.76
R5550:Gbp4	UTSW	5	105,269,911 (GRCm39)	missense	probably damaging	1.00
R5701:Gbp4	UTSW	5	105,266,265 (GRCm39)	missense	possibly damaging	0.60
R5814:Gbp4	UTSW	5	105,267,785 (GRCm39)	missense	probably benign	0.27
R6128:Gbp4	UTSW	5	105,283,030 (GRCm39)	missense	possibly damaging	0.93
R6307:Gbp4	UTSW	5	105,270,975 (GRCm39)	nonsense	probably null
R6513:Gbp4	UTSW	5	105,270,986 (GRCm39)	missense	possibly damaging	0.69
R6870:Gbp4	UTSW	5	105,273,444 (GRCm39)	missense	probably damaging	1.00
R6938:Gbp4	UTSW	5	105,282,943 (GRCm39)	missense	probably damaging	0.99
R7063:Gbp4	UTSW	5	105,266,314 (GRCm39)	missense	probably damaging	0.96
R7124:Gbp4	UTSW	5	105,267,825 (GRCm39)	missense	possibly damaging	0.45
R7457:Gbp4	UTSW	5	105,267,419 (GRCm39)	missense	probably damaging	0.98
R7615:Gbp4	UTSW	5	105,270,848 (GRCm39)	missense	possibly damaging	0.95
R7877:Gbp4	UTSW	5	105,266,161 (GRCm39)	missense	probably benign	0.34
R7905:Gbp4	UTSW	5	105,268,953 (GRCm39)	missense	probably damaging	1.00
R8274:Gbp4	UTSW	5	105,267,338 (GRCm39)	missense	probably benign	0.01
R8377:Gbp4	UTSW	5	105,266,328 (GRCm39)	missense	probably benign	0.02
R8414:Gbp4	UTSW	5	105,284,703 (GRCm39)	missense	probably benign	0.05
R8423:Gbp4	UTSW	5	105,267,800 (GRCm39)	missense	probably damaging	1.00
R8979:Gbp4	UTSW	5	105,267,248 (GRCm39)	missense	probably benign	0.00
R9485:Gbp4	UTSW	5	105,269,796 (GRCm39)	missense	probably damaging	1.00
R9579:Gbp4	UTSW	5	105,270,947 (GRCm39)	missense	probably damaging	1.00
R9598:Gbp4	UTSW	5	105,284,740 (GRCm39)	missense	probably damaging	1.00
S24628:Gbp4	UTSW	5	105,268,972 (GRCm39)	missense	possibly damaging	0.85
X0067:Gbp4	UTSW	5	105,273,491 (GRCm39)	missense	probably damaging	0.98
Z1088:Gbp4	UTSW	5	105,268,863 (GRCm39)	missense	probably damaging	1.00
Z1177:Gbp4	UTSW	5	105,273,001 (GRCm39)	missense	probably null	0.89
Z1177:Gbp4	UTSW	5	105,267,315 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGATGCCCTTTAATCAGCAC -3'
(R):5'- GCACTAAGGATCGCTTGCTG -3'

Sequencing Primer
(F):5'- TCTTCTGTGCAGAATGAAAATGG -3'
(R):5'- ACTAAGGATCGCTTGCTGAAGTTTTG -3'

Posted On

2019-06-07