Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Akip1'

56681

Institutional Source

Beutler Lab

Gene Symbol

Akip1

Ensembl Gene

ENSMUSG00000031023

Gene Name

A kinase (PRKA) interacting protein 1

Synonyms

ORF27, BCA3, ICRFP703B1614Q5.6, D930014E17Rik, ICRFP703N2430Q5.6, D7H11orf17

MMRRC Submission

038825-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109703690-109712189 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 109707519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000143581] [ENSMUST00000207745]

AlphaFold

Q9JJR5

Predicted Effect

probably benign
Transcript: ENSMUST00000033334

SMART Domains

Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022

Domain	Start	End	E-Value	Type
Pfam:DUF4537	85	225	1.1e-41	PFAM
low complexity region	258	284	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033335

Predicted Effect

probably benign
Transcript: ENSMUST00000106735

SMART Domains

Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022

Domain	Start	End	E-Value	Type
Pfam:DUF4537	85	225	6.3e-44	PFAM
low complexity region	258	284	N/A	INTRINSIC
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143581

SMART Domains

Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207292

Predicted Effect

probably benign
Transcript: ENSMUST00000207745

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,231,217	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 70,884,225	F139L	unknown	Het
Aco1	A	G	4: 40,175,697	E146G	probably damaging	Het
Adam2	T	G	14: 66,034,816	D639A	probably benign	Het
Adh4	G	T	3: 138,428,074	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,248,702	D76G	probably damaging	Het
AF366264	T	C	8: 13,837,870	R74G	probably benign	Het
Ap3d1	T	A	10: 80,719,382	K370*	probably null	Het
Arfgef1	C	A	1: 10,199,851	V358L	probably benign	Het
Arpp21	A	T	9: 112,183,498	D85E	probably benign	Het
Azi2	A	T	9: 118,062,057	L383F	probably benign	Het
Bpgm	T	A	6: 34,504,287	D206E	probably benign	Het
Bsn	T	C	9: 108,107,834	D3007G	unknown	Het
Ccdc142	T	G	6: 83,107,198		probably benign	Het
Cep135	T	C	5: 76,615,657	V498A	probably benign	Het
Cntn6	A	T	6: 104,863,148	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,296,708		probably benign	Het
Csf2rb2	G	A	15: 78,291,960	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,463,085	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,196,778	T152A	probably benign	Het
Def8	G	A	8: 123,454,357	W176*	probably null	Het
Dgkg	A	G	16: 22,579,729		probably benign	Het
Ear10	T	C	14: 43,922,994		probably null	Het
Fbxw2	A	T	2: 34,822,847	Y67*	probably null	Het
Flii	T	A	11: 60,715,552	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,551,144	R270K	probably benign	Het
Gm9833	T	C	3: 10,088,783	L204P	possibly damaging	Het
Gnl3	T	A	14: 31,017,153	K75N	probably damaging	Het
Gpc6	A	T	14: 117,624,493	M274L	probably benign	Het
Ifi47	A	G	11: 49,096,651	E415G	possibly damaging	Het
Ift57	A	G	16: 49,711,896	T130A	probably benign	Het
Itpr2	T	A	6: 146,171,412	D2373V	probably damaging	Het
Kat6a	T	C	8: 22,939,323	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,948,073		probably benign	Het
Klra2	T	C	6: 131,220,104		probably benign	Het
Lama5	A	G	2: 180,189,331		probably null	Het
Mapk4	A	G	18: 73,930,454	S566P	probably benign	Het
Mindy4	C	A	6: 55,276,585	R480S	possibly damaging	Het
Mterf3	T	C	13: 66,922,753		probably benign	Het
Mtmr2	A	G	9: 13,801,913		probably null	Het
Naip5	T	C	13: 100,219,688	T1140A	probably benign	Het
Nf1	A	G	11: 79,535,703	T1648A	probably damaging	Het
Nlk	A	T	11: 78,695,844	D141E	probably benign	Het
Noxa1	C	A	2: 25,086,094		probably benign	Het
Olfr1279	A	G	2: 111,306,412	N69S	probably benign	Het
Olfr1480	A	T	19: 13,530,249	Y236F	possibly damaging	Het
Olfr476	T	C	7: 107,967,472	V25A	probably benign	Het
Otog	G	A	7: 46,264,228		probably null	Het
Pebp4	T	C	14: 70,048,347		probably benign	Het
Phgdh	G	T	3: 98,333,291	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800		probably benign	Het
Ptpn6	T	C	6: 124,725,279	H346R	probably benign	Het
Rsf1	T	C	7: 97,662,019	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,828,686	H624Y	probably damaging	Het
Setdb2	T	C	14: 59,406,704	N656D	probably benign	Het
Slc22a23	T	C	13: 34,299,093	T268A	probably benign	Het
Slc3a1	A	T	17: 85,032,794	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,852,078	S206P	probably benign	Het
Susd2	T	A	10: 75,639,350	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121	Q2063*	probably null	Het
Syne2	G	A	12: 75,930,983	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,943,976	L64P	probably damaging	Het
Tigd2	A	G	6: 59,211,287	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,873,985	V411F	probably damaging	Het
Ubr4	T	C	4: 139,436,302		probably null	Het
Ush2a	G	A	1: 188,822,738	C3571Y	probably benign	Het
Usp8	A	G	2: 126,720,110	M75V	possibly damaging	Het
Vcan	C	T	13: 89,704,706	D712N	probably damaging	Het
Vcan	C	A	13: 89,712,267	R327L	probably damaging	Het
Vps8	A	G	16: 21,434,933	E8G	probably benign	Het
Washc5	T	C	15: 59,359,409	D335G	probably benign	Het
Zbtb39	A	G	10: 127,742,835	N426S	probably benign	Het
Zfp184	T	A	13: 21,949,749	D55E	probably damaging	Het
Zfp882	T	C	8: 71,914,337	V336A	probably benign	Het

Other mutations in Akip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Akip1	APN	7	109711838	missense	probably damaging	1.00
R0024:Akip1	UTSW	7	109704138	missense	probably benign	0.00
R1872:Akip1	UTSW	7	109711775	missense	probably damaging	1.00
R3861:Akip1	UTSW	7	109707406	unclassified	probably benign
R4172:Akip1	UTSW	7	109707509	nonsense	probably null
R4173:Akip1	UTSW	7	109707509	nonsense	probably null
R4174:Akip1	UTSW	7	109707509	nonsense	probably null
R4548:Akip1	UTSW	7	109704986	nonsense	probably null
R4675:Akip1	UTSW	7	109708981	missense	possibly damaging	0.95
R4687:Akip1	UTSW	7	109704986	nonsense	probably null
R4965:Akip1	UTSW	7	109711754	missense	probably damaging	0.99
R5867:Akip1	UTSW	7	109707477	missense	probably benign	0.00
R6235:Akip1	UTSW	7	109707413	missense	probably benign
R7664:Akip1	UTSW	7	109708980	missense	probably benign	0.04
R7743:Akip1	UTSW	7	109711828	missense	probably benign
R7878:Akip1	UTSW	7	109707402	missense	probably damaging	0.97
R8006:Akip1	UTSW	7	109703992	missense	probably damaging	1.00
R8435:Akip1	UTSW	7	109704986	missense	unknown
R8474:Akip1	UTSW	7	109707490	missense	probably benign	0.02
R9367:Akip1	UTSW	7	109708949	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGAGAAAACATGGTCCCGGCTTAC -3'
(R):5'- GAAGTTCCCTGAGGCTGTCAAGTG -3'

Sequencing Primer
(F):5'- GAGTTCTTGCCCTACAGAGG -3'
(R):5'- CAGGCAGCTGGTAACACAAA -3'

Posted On

2013-07-11