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

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 (GRCm38)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 70,884,225 (GRCm38)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm38)	E146G	probably damaging	Het
Adam2	T	G	14: 66,034,816 (GRCm38)	D639A	probably benign	Het
Adh4	G	T	3: 138,428,074 (GRCm38)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,248,702 (GRCm38)	D76G	probably damaging	Het
Ap3d1	T	A	10: 80,719,382 (GRCm38)	K370*	probably null	Het
Arfgef1	C	A	1: 10,199,851 (GRCm38)	V358L	probably benign	Het
Arpp21	A	T	9: 112,183,498 (GRCm38)	D85E	probably benign	Het
Azi2	A	T	9: 118,062,057 (GRCm38)	L383F	probably benign	Het
Bpgm	T	A	6: 34,504,287 (GRCm38)	D206E	probably benign	Het
Bsn	T	C	9: 108,107,834 (GRCm38)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,107,198 (GRCm38)		probably benign	Het
Cep135	T	C	5: 76,615,657 (GRCm38)	V498A	probably benign	Het
Cntn6	A	T	6: 104,863,148 (GRCm38)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,296,708 (GRCm38)		probably benign	Het
Csf2rb2	G	A	15: 78,291,960 (GRCm38)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,463,085 (GRCm38)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,196,778 (GRCm38)	T152A	probably benign	Het
Def8	G	A	8: 123,454,357 (GRCm38)	W176*	probably null	Het
Dgkg	A	G	16: 22,579,729 (GRCm38)		probably benign	Het
Ear10	T	C	14: 43,922,994 (GRCm38)		probably null	Het
Fbxw2	A	T	2: 34,822,847 (GRCm38)	Y67*	probably null	Het
Flii	T	A	11: 60,715,552 (GRCm38)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,551,144 (GRCm38)	R270K	probably benign	Het
Gnl3	T	A	14: 31,017,153 (GRCm38)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,624,493 (GRCm38)	M274L	probably benign	Het
Ifi47	A	G	11: 49,096,651 (GRCm38)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,711,896 (GRCm38)	T130A	probably benign	Het
Itpr2	T	A	6: 146,171,412 (GRCm38)	D2373V	probably damaging	Het
Kat6a	T	C	8: 22,939,323 (GRCm38)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,948,073 (GRCm38)		probably benign	Het
Klra2	T	C	6: 131,220,104 (GRCm38)		probably benign	Het
Lama5	A	G	2: 180,189,331 (GRCm38)		probably null	Het
Mapk4	A	G	18: 73,930,454 (GRCm38)	S566P	probably benign	Het
Mindy4	C	A	6: 55,276,585 (GRCm38)	R480S	possibly damaging	Het
Mterf3	T	C	13: 66,922,753 (GRCm38)		probably benign	Het
Mtmr2	A	G	9: 13,801,913 (GRCm38)		probably null	Het
Myef2l	T	C	3: 10,088,783 (GRCm38)	L204P	possibly damaging	Het
Naip5	T	C	13: 100,219,688 (GRCm38)	T1140A	probably benign	Het
Nf1	A	G	11: 79,535,703 (GRCm38)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,695,844 (GRCm38)	D141E	probably benign	Het
Noxa1	C	A	2: 25,086,094 (GRCm38)		probably benign	Het
Or4g16	A	G	2: 111,306,412 (GRCm38)	N69S	probably benign	Het
Or5b121	A	T	19: 13,530,249 (GRCm38)	Y236F	possibly damaging	Het
Or5p55	T	C	7: 107,967,472 (GRCm38)	V25A	probably benign	Het
Otog	G	A	7: 46,264,228 (GRCm38)		probably null	Het
Pebp4	T	C	14: 70,048,347 (GRCm38)		probably benign	Het
Phgdh	G	T	3: 98,333,291 (GRCm38)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm38)		probably benign	Het
Ptpn6	T	C	6: 124,725,279 (GRCm38)	H346R	probably benign	Het
Rsf1	T	C	7: 97,662,019 (GRCm38)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,828,686 (GRCm38)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,837,870 (GRCm38)	R74G	probably benign	Het
Setdb2	T	C	14: 59,406,704 (GRCm38)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,299,093 (GRCm38)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,032,794 (GRCm38)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,852,078 (GRCm38)	S206P	probably benign	Het
Susd2	T	A	10: 75,639,350 (GRCm38)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm38)	Q2063*	probably null	Het
Syne2	G	A	12: 75,930,983 (GRCm38)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,943,976 (GRCm38)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,211,287 (GRCm38)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,873,985 (GRCm38)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,436,302 (GRCm38)		probably null	Het
Ush2a	G	A	1: 188,822,738 (GRCm38)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,720,110 (GRCm38)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,704,706 (GRCm38)	D712N	probably damaging	Het
Vcan	C	A	13: 89,712,267 (GRCm38)	R327L	probably damaging	Het
Vps8	A	G	16: 21,434,933 (GRCm38)	E8G	probably benign	Het
Washc5	T	C	15: 59,359,409 (GRCm38)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,742,835 (GRCm38)	N426S	probably benign	Het
Zfp184	T	A	13: 21,949,749 (GRCm38)	D55E	probably damaging	Het
Zfp882	T	C	8: 71,914,337 (GRCm38)	V336A	probably benign	Het

Other mutations in Akip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Akip1	APN	7	109,711,838 (GRCm38)	missense	probably damaging	1.00
R0024:Akip1	UTSW	7	109,704,138 (GRCm38)	missense	probably benign	0.00
R1872:Akip1	UTSW	7	109,711,775 (GRCm38)	missense	probably damaging	1.00
R3861:Akip1	UTSW	7	109,707,406 (GRCm38)	unclassified	probably benign
R4172:Akip1	UTSW	7	109,707,509 (GRCm38)	nonsense	probably null
R4173:Akip1	UTSW	7	109,707,509 (GRCm38)	nonsense	probably null
R4174:Akip1	UTSW	7	109,707,509 (GRCm38)	nonsense	probably null
R4548:Akip1	UTSW	7	109,704,986 (GRCm38)	nonsense	probably null
R4675:Akip1	UTSW	7	109,708,981 (GRCm38)	missense	possibly damaging	0.95
R4687:Akip1	UTSW	7	109,704,986 (GRCm38)	nonsense	probably null
R4965:Akip1	UTSW	7	109,711,754 (GRCm38)	missense	probably damaging	0.99
R5867:Akip1	UTSW	7	109,707,477 (GRCm38)	missense	probably benign	0.00
R6235:Akip1	UTSW	7	109,707,413 (GRCm38)	missense	probably benign
R7664:Akip1	UTSW	7	109,708,980 (GRCm38)	missense	probably benign	0.04
R7743:Akip1	UTSW	7	109,711,828 (GRCm38)	missense	probably benign
R7878:Akip1	UTSW	7	109,707,402 (GRCm38)	missense	probably damaging	0.97
R8006:Akip1	UTSW	7	109,703,992 (GRCm38)	missense	probably damaging	1.00
R8435:Akip1	UTSW	7	109,704,986 (GRCm38)	missense	unknown
R8474:Akip1	UTSW	7	109,707,490 (GRCm38)	missense	probably benign	0.02
R9367:Akip1	UTSW	7	109,708,949 (GRCm38)	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