Mutagenetix > Incidental Mutation

Incidental Mutation 'R0515:Gpank1'

48201

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

038709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35340472-35343791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35342475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 149 (A149S)

Ref Sequence

ENSEMBL: ENSMUSP00000135684 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000052167
AA Change: A172S

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

SMART Domains

Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417
AA Change: A172S

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 damaging
Transcript: ENSMUST00000165306
AA Change: A149S

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

SMART Domains

Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417
AA Change: A149S

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 damaging
Transcript: ENSMUST00000173043
AA Change: A149S

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

SMART Domains

Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417
AA Change: A149S

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

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

noncoding transcript
Transcript: ENSMUST00000173189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174311

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

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: 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: 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: ENSMUST00000174779

SMART Domains

Protein: ENSMUSP00000133684
Gene: ENSMUSG00000024387

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

Meta Mutation Damage Score

0.4911

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (40/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
App	C	T	16: 84,900,232 (GRCm39)		probably benign	Het
Arhgap11a	G	A	2: 113,667,816 (GRCm39)	T395I	possibly damaging	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Cd96	A	G	16: 45,884,268 (GRCm39)		probably benign	Het
Cfap57	A	G	4: 118,477,599 (GRCm39)	S2P	probably damaging	Het
Cltc	A	G	11: 86,599,865 (GRCm39)	S948P	probably benign	Het
Cyp3a41a	A	T	5: 145,654,810 (GRCm39)	H30Q	probably damaging	Het
Dcp2	C	T	18: 44,532,798 (GRCm39)	L105F	probably benign	Het
Dennd4c	T	C	4: 86,731,703 (GRCm39)	V887A	possibly damaging	Het
Dnaaf9	A	G	2: 130,582,408 (GRCm39)	V515A	probably damaging	Het
Gm11360	T	A	13: 28,140,143 (GRCm39)	D2E	probably damaging	Het
Gtf2i	C	A	5: 134,271,773 (GRCm39)	S792I	probably damaging	Het
Hvcn1	A	G	5: 122,371,582 (GRCm39)	N41D	probably damaging	Het
Klk1b5	A	G	7: 43,867,957 (GRCm39)	Y43C	probably damaging	Het
Lmtk2	A	G	5: 144,111,809 (GRCm39)	D843G	possibly damaging	Het
Lrriq1	A	T	10: 102,904,829 (GRCm39)		probably null	Het
Mapk8ip1	A	T	2: 92,217,701 (GRCm39)	I198N	possibly damaging	Het
Mill1	T	C	7: 17,998,798 (GRCm39)	V336A	probably benign	Het
Mroh7	T	A	4: 106,548,861 (GRCm39)	M1001L	probably benign	Het
Nfe2	T	A	15: 103,157,854 (GRCm39)	T46S	probably null	Het
Or8b40	T	C	9: 38,027,313 (GRCm39)	S74P	probably damaging	Het
Or9q1	T	C	19: 13,805,185 (GRCm39)	S192G	probably damaging	Het
Parp4	T	C	14: 56,851,124 (GRCm39)	V709A	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Prex2	A	T	1: 11,270,098 (GRCm39)	Q1261L	probably damaging	Het
Prl8a8	T	A	13: 27,692,350 (GRCm39)	I214L	probably damaging	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Siglecf	T	C	7: 43,005,055 (GRCm39)		probably null	Het
Slco1b2	T	C	6: 141,615,136 (GRCm39)	F347S	possibly damaging	Het
Sox13	A	T	1: 133,311,457 (GRCm39)	Y592N	probably damaging	Het
Synj1	C	T	16: 90,790,910 (GRCm39)	A84T	possibly damaging	Het
Tent5b	A	T	4: 133,213,450 (GRCm39)	H107L	possibly damaging	Het
Trpv5	T	A	6: 41,651,145 (GRCm39)		probably benign	Het
Tshz1	A	G	18: 84,034,090 (GRCm39)	V106A	probably benign	Het

Other mutations in Gpank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1055:Gpank1	UTSW	17	35,343,284 (GRCm39)	missense	probably damaging	1.00
R2850:Gpank1	UTSW	17	35,343,557 (GRCm39)	missense	probably benign	0.21
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'- TGACAGTAGTTCCTCTAAGCCCCAG -3'
(R):5'- ATGGGTGTAAGTGAAGGCTCCCTC -3'

Sequencing Primer
(F):5'- TCTAAGCCCCAGAGAGCTG -3'
(R):5'- TGAAGGCTCCCTCCTCAC -3'

Posted On

2013-06-12