Mutagenetix > Incidental Mutation

Incidental Mutation 'R5191:Aknad1'

398124

Institutional Source

Beutler Lab

Gene Symbol

Aknad1

Ensembl Gene

ENSMUSG00000049565

Gene Name

AKNA domain containing 1

Synonyms

4921525H12Rik

MMRRC Submission

043263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108646974-108689625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108659867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 294 (V294I)

Ref Sequence

ENSEMBL: ENSMUSP00000121755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123556] [ENSMUST00000133931]

AlphaFold

E9Q8N6

Predicted Effect

probably benign
Transcript: ENSMUST00000123556
AA Change: V294I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: V294I

Domain	Start	End	E-Value	Type
Pfam:AKNA	322	414	3.4e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133931
AA Change: V294I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: V294I

Domain	Start	End	E-Value	Type
Pfam:AKNA	322	415	2.5e-35	PFAM
low complexity region	557	572	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150998

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	G	15: 101,034,946 (GRCm39)	E235G	probably damaging	Het
Adam26b	T	C	8: 43,973,028 (GRCm39)	D658G	probably damaging	Het
Adamts12	A	G	15: 11,327,843 (GRCm39)	R1407G	probably benign	Het
Arfgef2	A	G	2: 166,718,431 (GRCm39)	T1407A	probably damaging	Het
Atp5f1a	C	T	18: 77,867,929 (GRCm39)	P318S	probably damaging	Het
Atp9a	C	T	2: 168,503,983 (GRCm39)	V494M	possibly damaging	Het
Ccdc69	A	T	11: 54,943,719 (GRCm39)		probably null	Het
Crh	T	C	3: 19,748,093 (GRCm39)	E183G	probably damaging	Het
Cyp2c40	A	C	19: 39,791,035 (GRCm39)	N265K	probably damaging	Het
D630003M21Rik	C	T	2: 158,042,955 (GRCm39)	A862T	probably benign	Het
Dact3	T	G	7: 16,609,375 (GRCm39)	V9G	probably damaging	Het
Dnaaf9	A	T	2: 130,579,323 (GRCm39)	I638N	possibly damaging	Het
Dnah8	A	G	17: 30,965,739 (GRCm39)	E2357G	probably damaging	Het
Dzip1	C	T	14: 119,148,805 (GRCm39)	M291I	probably damaging	Het
Etl4	G	T	2: 20,344,810 (GRCm39)	S38I	probably damaging	Het
Fyb2	G	T	4: 104,852,994 (GRCm39)	C558F	possibly damaging	Het
Galnt3	T	C	2: 65,924,050 (GRCm39)	E406G	probably damaging	Het
Golga3	T	A	5: 110,332,173 (GRCm39)		probably benign	Het
Gpr179	T	A	11: 97,228,975 (GRCm39)	Q1060L	possibly damaging	Het
Havcr1	A	T	11: 46,647,024 (GRCm39)	I153F	probably benign	Het
Hnrnpc	A	T	14: 52,314,964 (GRCm39)	V141E	probably damaging	Het
Kcnj2	C	T	11: 110,963,297 (GRCm39)	Q230*	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Limch1	T	C	5: 67,184,904 (GRCm39)	L631P	probably damaging	Het
Lpin1	T	C	12: 16,630,829 (GRCm39)	N23S	possibly damaging	Het
Macf1	A	G	4: 123,366,755 (GRCm39)	S1104P	probably benign	Het
Man2b1	A	G	8: 85,811,088 (GRCm39)	D73G	probably damaging	Het
Marf1	A	G	16: 13,963,942 (GRCm39)	F454L	probably damaging	Het
Mcpt4	T	A	14: 56,298,466 (GRCm39)	I90L	probably benign	Het
Mfsd4b5	T	C	10: 39,846,668 (GRCm39)	E304G	probably damaging	Het
Mst1r	G	A	9: 107,788,750 (GRCm39)	R423H	probably damaging	Het
Muc20	G	A	16: 32,614,846 (GRCm39)	S177L	unknown	Het
Muc5b	A	G	7: 141,412,276 (GRCm39)	T1741A	unknown	Het
Myo1g	C	T	11: 6,465,105 (GRCm39)	A447T	probably benign	Het
Nr1h2	C	A	7: 44,199,840 (GRCm39)	A360S	probably damaging	Het
Nufip1	A	G	14: 76,349,429 (GRCm39)	K154E	probably damaging	Het
Or12k8	T	G	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or2a54	T	A	6: 43,092,800 (GRCm39)	N41K	probably damaging	Het
Or7e166	G	A	9: 19,624,630 (GRCm39)	C169Y	probably damaging	Het
Pecr	A	T	1: 72,314,136 (GRCm39)		probably null	Het
Pkd2	G	A	5: 104,634,547 (GRCm39)	R526Q	probably benign	Het
Plec	T	C	15: 76,059,365 (GRCm39)	E3551G	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sarm1	G	A	11: 78,387,945 (GRCm39)	Q114*	probably null	Het
Sec31a	T	C	5: 100,553,370 (GRCm39)	E112G	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc9a2	G	T	1: 40,783,053 (GRCm39)	R439L	probably damaging	Het
Sptb	C	A	12: 76,659,608 (GRCm39)	E1097D	probably benign	Het
Stk38	A	C	17: 29,193,344 (GRCm39)	C362G	probably benign	Het
Stmn2	A	T	3: 8,610,635 (GRCm39)	M40L	probably benign	Het
Sytl2	A	T	7: 90,024,860 (GRCm39)	T283S	probably damaging	Het
Tcf4	A	G	18: 69,775,954 (GRCm39)	S48G	probably damaging	Het
Tlr4	A	T	4: 66,759,616 (GRCm39)	H803L	probably damaging	Het
Ttn	C	T	2: 76,709,432 (GRCm39)		probably benign	Het
Tyk2	G	T	9: 21,018,793 (GRCm39)	Q1099K	probably damaging	Het
Usp30	C	T	5: 114,203,755 (GRCm39)		probably benign	Het
Vmn1r175	A	G	7: 23,508,447 (GRCm39)	V60A	possibly damaging	Het
Zc3h12d	C	A	10: 7,743,582 (GRCm39)	P451T	possibly damaging	Het
Zeb2	T	C	2: 44,892,612 (GRCm39)	S146G	probably benign	Het
Zfp236	T	A	18: 82,639,548 (GRCm39)	N1233I	probably damaging	Het
Zfp954	A	G	7: 7,119,022 (GRCm39)	V174A	probably damaging	Het
Zswim1	G	A	2: 164,667,939 (GRCm39)	S397N	probably benign	Het

Other mutations in Aknad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Aknad1	APN	3	108,682,324 (GRCm39)	missense	probably damaging	0.96
IGL01734:Aknad1	APN	3	108,659,217 (GRCm39)	missense	probably benign	0.05
IGL01877:Aknad1	APN	3	108,682,406 (GRCm39)	missense	probably damaging	0.99
IGL01964:Aknad1	APN	3	108,685,593 (GRCm39)	missense	probably benign
IGL03091:Aknad1	APN	3	108,659,219 (GRCm39)	missense	possibly damaging	0.76
IGL03172:Aknad1	APN	3	108,688,519 (GRCm39)	missense	possibly damaging	0.53
R0023:Aknad1	UTSW	3	108,688,501 (GRCm39)	missense	probably benign	0.00
R0023:Aknad1	UTSW	3	108,688,501 (GRCm39)	missense	probably benign	0.00
R0238:Aknad1	UTSW	3	108,688,555 (GRCm39)	missense	probably benign
R0238:Aknad1	UTSW	3	108,688,555 (GRCm39)	missense	probably benign
R0294:Aknad1	UTSW	3	108,682,508 (GRCm39)	missense	probably damaging	0.99
R0931:Aknad1	UTSW	3	108,659,339 (GRCm39)	missense	probably damaging	1.00
R1147:Aknad1	UTSW	3	108,659,857 (GRCm39)	missense	possibly damaging	0.89
R1147:Aknad1	UTSW	3	108,659,857 (GRCm39)	missense	possibly damaging	0.89
R1179:Aknad1	UTSW	3	108,659,783 (GRCm39)	missense	possibly damaging	0.78
R1579:Aknad1	UTSW	3	108,659,452 (GRCm39)	nonsense	probably null
R1746:Aknad1	UTSW	3	108,659,099 (GRCm39)	missense	possibly damaging	0.48
R2205:Aknad1	UTSW	3	108,664,609 (GRCm39)	missense	probably damaging	1.00
R2316:Aknad1	UTSW	3	108,688,472 (GRCm39)	missense	probably damaging	0.98
R2519:Aknad1	UTSW	3	108,663,784 (GRCm39)	missense	probably damaging	0.97
R3087:Aknad1	UTSW	3	108,664,179 (GRCm39)	nonsense	probably null
R4007:Aknad1	UTSW	3	108,682,598 (GRCm39)	missense	probably benign	0.33
R4716:Aknad1	UTSW	3	108,682,417 (GRCm39)	critical splice donor site	probably null
R4762:Aknad1	UTSW	3	108,682,547 (GRCm39)	missense	possibly damaging	0.86
R4852:Aknad1	UTSW	3	108,659,056 (GRCm39)	missense	probably damaging	0.99
R4910:Aknad1	UTSW	3	108,688,568 (GRCm39)	critical splice donor site	probably null
R5191:Aknad1	UTSW	3	108,659,306 (GRCm39)	missense	probably benign	0.04
R5918:Aknad1	UTSW	3	108,659,703 (GRCm39)	missense	probably benign	0.00
R6246:Aknad1	UTSW	3	108,659,148 (GRCm39)	missense	probably damaging	1.00
R6730:Aknad1	UTSW	3	108,659,655 (GRCm39)	missense	possibly damaging	0.95
R7123:Aknad1	UTSW	3	108,682,560 (GRCm39)	nonsense	probably null
R7641:Aknad1	UTSW	3	108,679,291 (GRCm39)	missense	probably benign	0.41
R8181:Aknad1	UTSW	3	108,659,328 (GRCm39)	missense	possibly damaging	0.91
R8377:Aknad1	UTSW	3	108,689,255 (GRCm39)	missense	possibly damaging	0.53
R8430:Aknad1	UTSW	3	108,659,037 (GRCm39)	missense	possibly damaging	0.95
R8735:Aknad1	UTSW	3	108,682,615 (GRCm39)	splice site	probably benign
R9191:Aknad1	UTSW	3	108,664,093 (GRCm39)	missense	probably damaging	1.00
R9250:Aknad1	UTSW	3	108,664,143 (GRCm39)	missense	probably damaging	1.00
X0023:Aknad1	UTSW	3	108,659,493 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TCCAAGCTTTCTAACCAGGAC -3'
(R):5'- TCACTTGCGCAGGATAACCC -3'

Sequencing Primer
(F):5'- GCTTTCTAACCAGGACTAAAGGTC -3'
(R):5'- GCGGCCTAAACCTCAGAG -3'

Posted On

2016-07-06