Mutagenetix > Incidental Mutation

Incidental Mutation 'R5716:Gpank1'

451196

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

043187-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35340472-35343791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35342229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 90 (K90E)

Ref Sequence

ENSEMBL: ENSMUSP00000056646 (fasta)

Gene Model

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

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: K90E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417
AA Change: K90E

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

possibly damaging
Transcript: ENSMUST00000165306
AA Change: K67E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417
AA Change: K67E

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

possibly damaging
Transcript: ENSMUST00000173043
AA Change: K67E

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417
AA Change: K67E

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

unknown
Transcript: ENSMUST00000173380
AA Change: K67E

SMART Domains

Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417
AA Change: K67E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173189

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177018

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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,594 (GRCm39)	V24A	possibly damaging	Het
Abca14	G	A	7: 119,846,217 (GRCm39)		probably null	Het
Acad12	A	G	5: 121,748,046 (GRCm39)	V124A	probably benign	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Bcar3	A	G	3: 122,306,564 (GRCm39)	E179G	probably damaging	Het
Brf2	A	G	8: 27,616,074 (GRCm39)	S104P	probably benign	Het
Coq8a	A	T	1: 180,006,825 (GRCm39)	Y21N	possibly damaging	Het
Cramp1	A	G	17: 25,193,709 (GRCm39)	F924L	probably damaging	Het
Dpyd	G	T	3: 118,692,828 (GRCm39)	C324F	probably damaging	Het
Eif4b	T	C	15: 101,990,494 (GRCm39)	Y33H	probably benign	Het
Fry	C	T	5: 150,293,686 (GRCm39)	Q460*	probably null	Het
Fryl	T	C	5: 73,257,808 (GRCm39)	I665V	probably benign	Het
Hexd	A	G	11: 121,112,388 (GRCm39)	I482V	probably benign	Het
Hmcn2	G	A	2: 31,226,579 (GRCm39)	E185K	probably damaging	Het
Hmcn2	A	G	2: 31,348,750 (GRCm39)	E4922G	possibly damaging	Het
Ino80d	A	T	1: 63,097,856 (GRCm39)	D679E	probably benign	Het
Kalrn	A	T	16: 33,807,546 (GRCm39)	C2608S	probably benign	Het
Kars1	T	A	8: 112,730,074 (GRCm39)		probably null	Het
Lcn2	A	G	2: 32,275,825 (GRCm39)	V211A	possibly damaging	Het
Lsmem1	A	T	12: 40,230,692 (GRCm39)	V70E	possibly damaging	Het
Med12l	T	C	3: 59,208,798 (GRCm39)		probably null	Het
Megf11	T	C	9: 64,413,392 (GRCm39)	F60L	possibly damaging	Het
Muc21	A	C	17: 35,931,675 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,100,596 (GRCm39)	H4438L	probably benign	Het
Nuf2	C	A	1: 169,349,958 (GRCm39)	V107F	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or6c8	T	A	10: 128,915,424 (GRCm39)	N136I	probably benign	Het
Or9i2	C	T	19: 13,816,003 (GRCm39)	C178Y	probably damaging	Het
Pabpn1l	A	G	8: 123,347,160 (GRCm39)	V215A	probably damaging	Het
Pnn	A	G	12: 59,118,658 (GRCm39)	I414V	probably benign	Het
Rab11fip3	A	G	17: 26,255,638 (GRCm39)	Y539H	probably damaging	Het
Rassf4	A	G	6: 116,638,828 (GRCm39)	V13A	probably benign	Het
Sephs1	T	C	2: 4,889,389 (GRCm39)	F56L	probably benign	Het
Sh3rf3	C	T	10: 58,967,105 (GRCm39)	P816S	probably benign	Het
Skint10	A	G	4: 112,568,844 (GRCm39)	L291P	probably damaging	Het
Thsd7a	T	A	6: 12,343,147 (GRCm39)	I1157L	probably benign	Het
Tmem184c	T	C	8: 78,333,036 (GRCm39)	H85R	possibly damaging	Het
Tmem94	T	C	11: 115,683,254 (GRCm39)	V679A	probably benign	Het
Tpcn2	A	C	7: 144,811,550 (GRCm39)	F566V	possibly damaging	Het
Uqcrc1	A	G	9: 108,776,473 (GRCm39)	N298D	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
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
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'- TCTCACAGGCATGTCTAGGC -3'
(R):5'- ACGAGCATTGATATTCCCTCCAG -3'

Sequencing Primer
(F):5'- TCATCGAATTTACCCCAGCGG -3'
(R):5'- ATTGATATTCCCTCCAGCTCCC -3'

Posted On

2017-01-03