Mutagenetix > Incidental Mutation

Incidental Mutation 'R8672:Gbp11'

661204

Institutional Source

Beutler Lab

Gene Symbol

Gbp11

Ensembl Gene

ENSMUSG00000092021

Gene Name

guanylate binding protein 11

Synonyms

Gm7141

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105323042-105346472 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105343809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 41 (I41F)

Ref Sequence

ENSEMBL: ENSMUSP00000132552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100960] [ENSMUST00000171587]

AlphaFold

A9YVJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000100960
AA Change: I41F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098520
Gene: ENSMUSG00000092021
AA Change: I41F

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	1.5e-122	PFAM
Pfam:GBP_C	281	574	3.4e-114	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171587
AA Change: I41F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132552
Gene: ENSMUSG00000092021
AA Change: I41F

Domain	Start	End	E-Value	Type
Pfam:GBP	16	279	4.9e-117	PFAM
Pfam:GBP_C	281	442	2.7e-75	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,090,329	E45*	probably null	Het
4932415D10Rik	A	T	10: 82,291,892	N1761K	probably benign	Het
9930021J03Rik	T	C	19: 29,754,164	T483A	probably benign	Het
Aadat	A	T	8: 60,506,145		probably benign	Het
Amigo3	A	G	9: 108,054,176	H266R	possibly damaging	Het
Amy2a1	A	T	3: 113,529,497	M214K	probably damaging	Het
Atp11b	A	T	3: 35,819,917	D685V	probably benign	Het
Aunip	T	A	4: 134,523,149	M135K	probably benign	Het
Card9	T	C	2: 26,357,938	T134A	probably benign	Het
Cd46	G	A	1: 195,082,641	T216I	probably benign	Het
Chit1	T	C	1: 134,151,267	V360A	unknown	Het
Crcp	A	G	5: 130,042,236	R59G	probably benign	Het
Csmd1	T	A	8: 15,926,598	E2873D	probably benign	Het
Cyp8b1	T	A	9: 121,914,920	M449L	probably benign	Het
Dpp7	T	C	2: 25,356,121	D40G	probably benign	Het
Eif4g3	T	A	4: 138,126,512	L463Q	possibly damaging	Het
Fzd9	T	C	5: 135,249,670	I454V	probably benign	Het
Gkap1	G	A	13: 58,243,848	T231I	probably damaging	Het
Heatr5b	A	G	17: 78,762,203	L1705P	probably damaging	Het
Herc3	T	A	6: 58,873,801	F467I	probably damaging	Het
Ifih1	T	C	2: 62,605,649	E699G	possibly damaging	Het
Ints5	T	A	19: 8,896,006	L443Q	probably damaging	Het
Itpr2	A	T	6: 146,374,518	C764S	probably damaging	Het
Kcnma1	A	T	14: 23,501,162	I519N	probably damaging	Het
Krtap4-1	C	T	11: 99,628,064	C40Y	unknown	Het
Mdn1	A	G	4: 32,768,793	D5384G	probably damaging	Het
Mpl	T	C	4: 118,448,913	Y310C	probably damaging	Het
Mucl1	A	G	15: 103,753,797	S48P	possibly damaging	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Nemp1	T	C	10: 127,677,119	S8P	probably benign	Het
Nisch	A	G	14: 31,173,136	C1068R	probably damaging	Het
Npr3	T	C	15: 11,851,493	N404D	probably damaging	Het
Nwd1	C	G	8: 72,667,379	H423Q	probably damaging	Het
Olfr1062	T	A	2: 86,423,632	M15L	probably benign	Het
Olfr76	C	T	19: 12,120,557	V52M	probably benign	Het
Olfr792	T	A	10: 129,540,727	N63K	probably damaging	Het
Pcdh9	T	C	14: 93,887,093	N547S	probably benign	Het
Pdha2	C	A	3: 141,211,363	R128L	probably damaging	Het
Pebp1	A	G	5: 117,283,271	Y181H	probably benign	Het
Peg3	T	G	7: 6,708,524	D1233A	possibly damaging	Het
Pepd	C	A	7: 34,942,682	T146N	probably damaging	Het
Ptk2b	A	T	14: 66,156,392	D877E	probably benign	Het
Rabgap1l	A	C	1: 160,443,276	M647R	probably damaging	Het
Rp1	A	G	1: 4,348,784	S702P	possibly damaging	Het
Shb	A	T	4: 45,489,161	D238E	probably damaging	Het
Slc36a1	T	A	11: 55,232,508	V433D	possibly damaging	Het
Spen	C	T	4: 141,470,370	A3396T	probably benign	Het
Tcerg1	A	T	18: 42,553,494	K705N	probably damaging	Het
Thbs1	C	A	2: 118,113,238	N112K	probably benign	Het
Zfp658	T	C	7: 43,573,495	I398T	possibly damaging	Het

Other mutations in Gbp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Gbp11	APN	5	105327616	critical splice acceptor site	probably null
IGL01347:Gbp11	APN	5	105331328	splice site	probably benign
IGL01762:Gbp11	APN	5	105327607	missense	probably benign
IGL02157:Gbp11	APN	5	105327508	missense	possibly damaging	0.95
Quilt	UTSW	5	105325508	missense	probably damaging	1.00
Tilted	UTSW	5	105331053	missense	probably damaging	1.00
R0550:Gbp11	UTSW	5	105343750	missense	probably benign	0.28
R0647:Gbp11	UTSW	5	105330964	missense	possibly damaging	0.93
R1530:Gbp11	UTSW	5	105327489	missense	probably damaging	0.99
R1612:Gbp11	UTSW	5	105326596	missense	possibly damaging	0.72
R1677:Gbp11	UTSW	5	105327411	missense	probably damaging	1.00
R1738:Gbp11	UTSW	5	105326644	missense	probably benign	0.02
R2063:Gbp11	UTSW	5	105328584	nonsense	probably null
R2869:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2869:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2870:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R2873:Gbp11	UTSW	5	105331000	missense	probably benign	0.00
R3915:Gbp11	UTSW	5	105331112	missense	probably damaging	1.00
R4854:Gbp11	UTSW	5	105325508	missense	probably damaging	1.00
R5140:Gbp11	UTSW	5	105331053	missense	probably damaging	1.00
R5534:Gbp11	UTSW	5	105331038	missense	probably damaging	1.00
R6091:Gbp11	UTSW	5	105331388	missense	possibly damaging	0.95
R6336:Gbp11	UTSW	5	105325489
R6351:Gbp11	UTSW	5	105327598	missense	probably benign	0.07
R6956:Gbp11	UTSW	5	105328375	critical splice donor site	probably null
R7371:Gbp11	UTSW	5	105342105	missense	probably benign	0.06
R7393:Gbp11	UTSW	5	105327577	missense	possibly damaging	0.60
R7410:Gbp11	UTSW	5	105343908	missense	probably damaging	1.00
R7443:Gbp11	UTSW	5	105330950	critical splice donor site	probably null
R7898:Gbp11	UTSW	5	105324932	missense	probably benign	0.00
R8465:Gbp11	UTSW	5	105325062	missense	probably benign	0.00
R8467:Gbp11	UTSW	5	105327591	missense	probably damaging	1.00
R8858:Gbp11	UTSW	5	105325526	nonsense	probably null
R8960:Gbp11	UTSW	5	105331385	missense	probably damaging	0.98
R9097:Gbp11	UTSW	5	105326481	makesense	probably null
R9232:Gbp11	UTSW	5	105328424	missense	possibly damaging	0.76
R9380:Gbp11	UTSW	5	105327336	missense	probably benign	0.00
R9400:Gbp11	UTSW	5	105330975	missense	probably damaging	1.00
R9438:Gbp11	UTSW	5	105326605	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTTAGCATGAGAGGGTGGC -3'
(R):5'- GATTGGTCCTAGTCGCTGAG -3'

Sequencing Primer
(F):5'- GCTTTGCTAAAAAGGAGTTCTGC -3'
(R):5'- GTCCTAGTCGCTGAGCCATTG -3'

Posted On

2021-03-08