Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Gbp8'

635860

Institutional Source

Beutler Lab

Gene Symbol

Gbp8

Ensembl Gene

ENSMUSG00000034438

Gene Name

guanylate-binding protein 8

Synonyms

5830443L24Rik

MMRRC Submission

067628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105160379-105201475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105198846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 23 (H23L)

Ref Sequence

ENSEMBL: ENSMUSP00000108338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031235] [ENSMUST00000112718]

AlphaFold

Q2V6D6

Predicted Effect

probably benign
Transcript: ENSMUST00000031235
AA Change: H23L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031235
Gene: ENSMUSG00000034438
AA Change: H23L

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: ENSMUST00000112718
AA Change: H23L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108338
Gene: ENSMUSG00000034438
AA Change: H23L

Domain	Start	End	E-Value	Type
Pfam:GBP	16	214	5e-95	PFAM
Pfam:GBP_C	206	493	1e-115	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,080 (GRCm39)	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,117,650 (GRCm39)	*204W	probably null	Het
Add2	A	G	6: 86,063,899 (GRCm39)	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,192,175 (GRCm39)	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,678,070 (GRCm39)	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,331,009 (GRCm39)	M166K	probably damaging	Het
Brd7	A	G	8: 89,070,243 (GRCm39)	F388L	probably damaging	Het
Cap2	G	A	13: 46,768,739 (GRCm39)	V182M	probably damaging	Het
Col22a1	A	T	15: 71,732,918 (GRCm39)	V1100E	unknown	Het
Cracdl	T	C	1: 37,664,047 (GRCm39)	D617G	probably benign	Het
Crisp2	T	C	17: 41,095,969 (GRCm39)	E63G	possibly damaging	Het
Dst	T	G	1: 34,253,685 (GRCm39)	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,456,156 (GRCm39)	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,704 (GRCm39)	H108Q	probably benign	Het
Fgd3	T	C	13: 49,449,823 (GRCm39)	D142G	probably benign	Het
Glt1d1	A	G	5: 127,768,080 (GRCm39)	E229G	probably benign	Het
Gpatch8	T	C	11: 102,371,213 (GRCm39)	D775G	unknown	Het
Heatr1	T	C	13: 12,430,928 (GRCm39)	Y1008H	probably benign	Het
Heatr5a	T	A	12: 52,005,792 (GRCm39)	N61I	probably benign	Het
Hydin	A	T	8: 111,319,270 (GRCm39)	H4391L	possibly damaging	Het
Ifi206	T	C	1: 173,309,450 (GRCm39)	E182G		Het
Mbtps1	A	G	8: 120,247,077 (GRCm39)	S789P	probably damaging	Het
Mex3a	T	C	3: 88,444,159 (GRCm39)	S412P	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,542 (GRCm39)	V318I	possibly damaging	Het
Mup2	T	A	4: 60,137,659 (GRCm39)	D128V	probably benign	Het
Ndufaf7	G	A	17: 79,254,461 (GRCm39)	C418Y	probably benign	Het
Nlrp4a	A	G	7: 26,150,219 (GRCm39)	S609G	probably benign	Het
Obscn	T	A	11: 58,898,697 (GRCm39)	Y6554F	unknown	Het
Odf2l	A	G	3: 144,856,495 (GRCm39)		probably benign	Het
Or14j2	A	T	17: 37,885,892 (GRCm39)	C141S	probably damaging	Het
Or1o11	T	C	17: 37,757,180 (GRCm39)	V245A	probably damaging	Het
Or4c104	A	T	2: 88,587,016 (GRCm39)	M1K	probably null	Het
Plod2	G	T	9: 92,424,371 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,541,418 (GRCm39)	V30A	probably benign	Het
Pxdn	T	G	12: 30,056,566 (GRCm39)	L1259R	probably damaging	Het
Rnf6	A	G	5: 146,147,714 (GRCm39)	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,415,724 (GRCm39)		probably null	Het
Scgb2b26	T	C	7: 33,643,833 (GRCm39)	T36A	probably benign	Het
Slc1a7	A	G	4: 107,865,508 (GRCm39)	N332S	probably benign	Het
Slfn5	T	C	11: 82,851,544 (GRCm39)	F614L	probably benign	Het
Smad7	C	A	18: 75,527,119 (GRCm39)	Q322K	probably damaging	Het
Smap1	T	C	1: 23,888,507 (GRCm39)	T253A	probably benign	Het
Socs5	G	T	17: 87,441,138 (GRCm39)	R26L	probably benign	Het
Steap4	A	T	5: 8,026,795 (GRCm39)	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,672,803 (GRCm39)	H142Y	probably benign	Het
Tent5c	A	G	3: 100,380,138 (GRCm39)	F206S	probably benign	Het
Tmem117	G	A	15: 94,992,679 (GRCm39)	M446I	probably benign	Het
Trav7-6	G	A	14: 53,954,550 (GRCm39)	D47N	probably benign	Het
Trim2	C	A	3: 84,100,646 (GRCm39)	A162S	probably damaging	Het
Ttc28	A	G	5: 111,373,596 (GRCm39)	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,425 (GRCm39)	V809A	probably damaging	Het
Wfikkn1	T	A	17: 26,097,071 (GRCm39)	T418S	probably benign	Het
Zbtb41	T	A	1: 139,356,919 (GRCm39)	D391E	possibly damaging	Het
Zfp109	G	A	7: 23,928,635 (GRCm39)	S266F	probably damaging	Het

Other mutations in Gbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Gbp8	APN	5	105,165,754 (GRCm39)	splice site	probably benign
IGL00775:Gbp8	APN	5	105,165,711 (GRCm39)	missense	probably damaging	0.96
IGL00788:Gbp8	APN	5	105,198,863 (GRCm39)	missense	probably benign	0.32
IGL01289:Gbp8	APN	5	105,165,735 (GRCm39)	missense	probably benign	0.01
IGL01634:Gbp8	APN	5	105,166,438 (GRCm39)	missense	probably damaging	0.96
IGL03392:Gbp8	APN	5	105,164,410 (GRCm39)	critical splice donor site	probably null
PIT4458001:Gbp8	UTSW	5	105,162,955 (GRCm39)	missense	probably benign
R0180:Gbp8	UTSW	5	105,179,142 (GRCm39)	missense	probably damaging	1.00
R0570:Gbp8	UTSW	5	105,165,541 (GRCm39)	splice site	probably null
R1370:Gbp8	UTSW	5	105,164,442 (GRCm39)	missense	possibly damaging	0.72
R1772:Gbp8	UTSW	5	105,163,987 (GRCm39)	missense	probably benign	0.36
R2261:Gbp8	UTSW	5	105,163,999 (GRCm39)	missense	possibly damaging	0.72
R2262:Gbp8	UTSW	5	105,163,999 (GRCm39)	missense	possibly damaging	0.72
R4050:Gbp8	UTSW	5	105,179,104 (GRCm39)	missense	probably damaging	1.00
R4405:Gbp8	UTSW	5	105,198,928 (GRCm39)	unclassified	probably benign
R4649:Gbp8	UTSW	5	105,189,807 (GRCm39)	missense	probably damaging	1.00
R4743:Gbp8	UTSW	5	105,178,707 (GRCm39)	missense	possibly damaging	0.91
R5228:Gbp8	UTSW	5	105,164,051 (GRCm39)	missense	probably benign	0.03
R5259:Gbp8	UTSW	5	105,198,845 (GRCm39)	missense	probably benign	0.00
R5543:Gbp8	UTSW	5	105,165,696 (GRCm39)	missense	possibly damaging	0.52
R5696:Gbp8	UTSW	5	105,166,682 (GRCm39)	missense	possibly damaging	0.92
R6352:Gbp8	UTSW	5	105,162,926 (GRCm39)	missense	possibly damaging	0.88
R6767:Gbp8	UTSW	5	105,166,478 (GRCm39)	missense	probably benign	0.08
R6847:Gbp8	UTSW	5	105,179,093 (GRCm39)	missense	probably benign	0.00
R7127:Gbp8	UTSW	5	105,165,578 (GRCm39)	missense	probably benign	0.04
R7188:Gbp8	UTSW	5	105,164,081 (GRCm39)	missense	probably benign	0.01
R7402:Gbp8	UTSW	5	105,179,161 (GRCm39)	missense	probably damaging	1.00
R7461:Gbp8	UTSW	5	105,178,880 (GRCm39)	missense	probably damaging	1.00
R7613:Gbp8	UTSW	5	105,178,880 (GRCm39)	missense	probably damaging	1.00
R7724:Gbp8	UTSW	5	105,179,160 (GRCm39)	missense	probably damaging	1.00
R8039:Gbp8	UTSW	5	105,198,783 (GRCm39)	nonsense	probably null
R8146:Gbp8	UTSW	5	105,178,844 (GRCm39)	missense	probably benign	0.39
R8230:Gbp8	UTSW	5	105,198,735 (GRCm39)	missense	probably benign	0.29
R8425:Gbp8	UTSW	5	105,165,640 (GRCm39)	missense	probably damaging	1.00
R8833:Gbp8	UTSW	5	105,166,668 (GRCm39)	missense	possibly damaging	0.69
R9062:Gbp8	UTSW	5	105,179,124 (GRCm39)	missense	possibly damaging	0.76
R9169:Gbp8	UTSW	5	105,179,155 (GRCm39)	missense	possibly damaging	0.92
R9193:Gbp8	UTSW	5	105,179,169 (GRCm39)	missense	probably damaging	1.00
R9566:Gbp8	UTSW	5	105,198,799 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTCAATTTAGCATGCGAGG -3'
(R):5'- CCAACTGGTCTTAGCTGCTG -3'

Sequencing Primer
(F):5'- GCTAAAAAGGAGTTCTGCTGTCC -3'
(R):5'- CTGAGCCATTGGGTGTCAG -3'

Posted On

2020-07-13