Mutagenetix > Incidental Mutation

Incidental Mutation 'R2850:Gpank1'

252134

Institutional Source

Beutler Lab

Gene Symbol

Gpank1

Ensembl Gene

ENSMUSG00000092417

Gene Name

G patch domain and ankyrin repeats 1

Synonyms

D17H6S54E, G5, Bat4

MMRRC Submission

040443-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35340472-35343791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35343557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 346 (S346G)

Ref Sequence

ENSEMBL: ENSMUSP00000056646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025246] [ENSMUST00000025249] [ENSMUST00000052167] [ENSMUST00000061859] [ENSMUST00000165306] [ENSMUST00000172765] [ENSMUST00000173043] [ENSMUST00000173380] [ENSMUST00000173114] [ENSMUST00000174024] [ENSMUST00000174779] [ENSMUST00000173915] [ENSMUST00000174306]

AlphaFold

Q61858

Predicted Effect

probably benign
Transcript: ENSMUST00000025246

SMART Domains

Protein: ENSMUSP00000025246
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	191	9.99e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025249

SMART Domains

Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

Domain	Start	End	E-Value	Type
Pfam:ApoM	1	189	9.2e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052167
AA Change: S346G

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417
AA Change: S346G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	82	99	N/A	INTRINSIC
ANK	156	186	4.36e-1	SMART
G_patch	269	315	1.45e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061859

SMART Domains

Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311

Domain	Start	End	E-Value	Type
Pfam:DUF4661	16	264	8.3e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165306
AA Change: S323G

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417
AA Change: S323G

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	4.36e-1	SMART
G_patch	246	292	1.45e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172765

SMART Domains

Protein: ENSMUSP00000134523
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	29	206	6.86e-132	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173043

SMART Domains

Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	2.7e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174855

Predicted Effect

probably benign
Transcript: ENSMUST00000173380

SMART Domains

Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173114

SMART Domains

Protein: ENSMUSP00000134218
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	191	9.99e-143	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174024

SMART Domains

Protein: ENSMUSP00000134673
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	169	5.07e-71	SMART
Blast:CK_II_beta	189	220	6e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174779

SMART Domains

Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	1	140	2.47e-83	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173915

SMART Domains

Protein: ENSMUSP00000133425
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	58	6.45e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174306

SMART Domains

Protein: ENSMUSP00000134413
Gene: ENSMUSG00000024387

Domain	Start	End	E-Value	Type
CK_II_beta	8	122	3.01e-64	SMART

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Ago1	T	C	4: 126,336,868 (GRCm39)		probably benign	Het
Ahi1	C	T	10: 20,876,492 (GRCm39)	T801I	probably benign	Het
Alms1	T	C	6: 85,598,281 (GRCm39)	S1505P	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Anxa6	T	A	11: 54,901,852 (GRCm39)	Y95F	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Clk1	A	G	1: 58,451,438 (GRCm39)	L457S	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Cntnap5c	T	A	17: 58,717,343 (GRCm39)		probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cubn	G	A	2: 13,327,764 (GRCm39)	T2687I	probably damaging	Het
Cypt3	T	A	X: 152,342,274 (GRCm39)	N168K	probably damaging	Het
E330020D12Rik	A	G	1: 153,282,336 (GRCm39)		noncoding transcript	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Fbxo22	T	C	9: 55,130,699 (GRCm39)	F323L	probably damaging	Het
Fnip1	A	T	11: 54,393,503 (GRCm39)	E646D	probably benign	Het
Gid4	G	A	11: 60,329,400 (GRCm39)		probably null	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Gtf3c6	T	C	10: 40,130,254 (GRCm39)		probably benign	Het
Hdx	T	C	X: 110,502,720 (GRCm39)	I562V	probably benign	Het
Ifrd2	T	C	9: 107,468,908 (GRCm39)		probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kif11	C	A	19: 37,397,941 (GRCm39)	D630E	probably benign	Het
Lpl	G	T	8: 69,352,164 (GRCm39)	E372*	probably null	Het
Mrps26	T	C	2: 130,406,967 (GRCm39)	V198A	probably benign	Het
Mucl1	T	C	15: 103,782,348 (GRCm39)	N201S	possibly damaging	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nfat5	A	G	8: 108,020,492 (GRCm39)	D12G	probably damaging	Het
Or5b102	T	C	19: 13,040,934 (GRCm39)	L53P	probably damaging	Het
Pik3r3	A	G	4: 116,127,981 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,350,622 (GRCm39)	V489E	possibly damaging	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Plb1	T	A	5: 32,450,568 (GRCm39)	S370T	probably benign	Het
Ppat	G	A	5: 77,067,222 (GRCm39)	T337I	probably benign	Het
Prkd3	A	G	17: 79,262,025 (GRCm39)	V763A	possibly damaging	Het
Prr9	A	T	3: 92,030,476 (GRCm39)	S55T	probably benign	Het
Rbpms	G	T	8: 34,324,405 (GRCm39)	N108K	possibly damaging	Het
Rc3h2	A	T	2: 37,267,427 (GRCm39)	D972E	probably benign	Het
Rrbp1	C	T	2: 143,791,269 (GRCm39)	R1378Q	probably benign	Het
Slc26a7	T	A	4: 14,593,806 (GRCm39)		probably benign	Het
Stard6	T	A	18: 70,616,522 (GRCm39)	H60Q	probably benign	Het
Sult6b2	T	C	6: 142,743,613 (GRCm39)	T138A	probably benign	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tmco3	A	G	8: 13,345,024 (GRCm39)	H268R	probably benign	Het
Tnn	T	C	1: 159,966,857 (GRCm39)	D429G	probably benign	Het
Tnrc6a	G	A	7: 122,779,023 (GRCm39)	G1245R	probably damaging	Het
Trem3	C	A	17: 48,556,669 (GRCm39)	L47M	probably benign	Het
Trpm6	T	A	19: 18,769,454 (GRCm39)	C307S	possibly damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Urb1	A	G	16: 90,571,144 (GRCm39)	Y1222H	probably benign	Het
Wdr81	A	T	11: 75,341,998 (GRCm39)	S1090T	probably damaging	Het
Ythdf3	T	C	3: 16,257,982 (GRCm39)		probably benign	Het
Zfp280d	A	G	9: 72,219,371 (GRCm39)	T183A	probably benign	Het
Zfp354c	G	A	11: 50,706,158 (GRCm39)	Q306*	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	probably benign	Het

Other mutations in Gpank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0515:Gpank1	UTSW	17	35,342,475 (GRCm39)	missense	probably damaging	1.00
R1055:Gpank1	UTSW	17	35,343,284 (GRCm39)	missense	probably damaging	1.00
R4274:Gpank1	UTSW	17	35,343,245 (GRCm39)	missense	probably benign	0.22
R5716:Gpank1	UTSW	17	35,342,229 (GRCm39)	missense	probably damaging	0.97
R6285:Gpank1	UTSW	17	35,343,266 (GRCm39)	missense	probably damaging	1.00
R9090:Gpank1	UTSW	17	35,340,734 (GRCm39)	unclassified	probably benign
R9271:Gpank1	UTSW	17	35,340,734 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAGGCTACTGCTGAGAGG -3'
(R):5'- GCCCTTCTCTCTAAAATCAGAGCC -3'

Sequencing Primer
(F):5'- CTACTGCTGAGAGGTGGCTG -3'
(R):5'- CCAACAGCTAAGGCCTAAGGG -3'

Posted On

2014-12-04