Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Aknad1'

193970

Institutional Source

Beutler Lab

Gene Symbol

Aknad1

Ensembl Gene

ENSMUSG00000049565

Gene Name

AKNA domain containing 1

Synonyms

4921525H12Rik

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

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

Stock #

R1746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108646974-108689625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108659099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 38 (T38A)

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: T38A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: T38A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133931
AA Change: T38A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: T38A

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

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,927,717 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap21	T	C	2: 20,865,910 (GRCm39)	E902G	probably damaging	Het
Atg2b	A	G	12: 105,635,588 (GRCm39)	S227P	possibly damaging	Het
Atp2c2	C	T	8: 120,461,182 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,260,864 (GRCm39)	V203A	probably damaging	Het
Chd9	A	C	8: 91,737,326 (GRCm39)	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Col4a2	G	A	8: 11,496,020 (GRCm39)	G1547D	probably benign	Het
Cul1	A	G	6: 47,485,179 (GRCm39)	E270G	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,888,933 (GRCm39)	T857K	probably benign	Het
Ednra	T	G	8: 78,398,211 (GRCm39)	T279P	probably benign	Het
Erbin	A	G	13: 103,987,339 (GRCm39)	I407T	probably damaging	Het
Fggy	A	G	4: 95,814,965 (GRCm39)	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,747,566 (GRCm39)	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,350,140 (GRCm39)	I357T	probably benign	Het
Gulp1	A	G	1: 44,793,513 (GRCm39)	H58R	possibly damaging	Het
Hid1	A	T	11: 115,245,464 (GRCm39)	V446E	probably damaging	Het
Igfn1	A	G	1: 135,897,561 (GRCm39)	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,675,118 (GRCm39)		probably null	Het
Kmt2d	A	C	15: 98,762,259 (GRCm39)	L409R	probably damaging	Het
Ltn1	A	C	16: 87,208,669 (GRCm39)	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,836,648 (GRCm39)	Q721*	probably null	Het
Nae1	A	G	8: 105,254,017 (GRCm39)	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,021,503 (GRCm39)	V83M	probably damaging	Het
Nrg2	G	A	18: 36,154,975 (GRCm39)	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,221,789 (GRCm39)	M150V	possibly damaging	Het
Or5p52	C	A	7: 107,502,093 (GRCm39)	H56Q	probably benign	Het
Or8g28	A	G	9: 39,169,498 (GRCm39)	S157P	probably damaging	Het
Papola	T	A	12: 105,773,468 (GRCm39)	D162E	probably benign	Het
Plxnc1	T	C	10: 94,680,041 (GRCm39)		probably null	Het
Ppp1r16b	T	A	2: 158,588,585 (GRCm39)		probably null	Het
Ptprq	T	A	10: 107,474,691 (GRCm39)	E1338V	probably damaging	Het
Puf60	G	A	15: 75,942,633 (GRCm39)	H437Y	probably benign	Het
Qsox2	C	T	2: 26,110,650 (GRCm39)	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,507,776 (GRCm39)	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,333,237 (GRCm39)		probably null	Het
Rfpl4b	C	T	10: 38,697,049 (GRCm39)	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Scara5	A	C	14: 65,968,539 (GRCm39)	M271L	probably benign	Het
Sel1l2	A	G	2: 140,127,157 (GRCm39)	L118P	probably damaging	Het
Sema6a	T	A	18: 47,439,416 (GRCm39)		probably benign	Het
Siglech	T	A	7: 55,418,252 (GRCm39)	H73Q	probably benign	Het
Sim1	A	G	10: 50,860,205 (GRCm39)	D689G	probably benign	Het
Skp2	T	C	15: 9,139,530 (GRCm39)	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,871,869 (GRCm39)	V114E	probably benign	Het
Slc26a6	G	A	9: 108,738,916 (GRCm39)	G614D	probably benign	Het
Sptbn2	C	T	19: 4,795,992 (GRCm39)	Q1724*	probably null	Het
Tet3	T	C	6: 83,345,050 (GRCm39)	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,829,714 (GRCm39)	D183A	possibly damaging	Het
Trmt44	A	G	5: 35,721,403 (GRCm39)	S587P	probably benign	Het
Ttn	G	T	2: 76,619,166 (GRCm39)		probably benign	Het
Tubgcp5	G	A	7: 55,458,285 (GRCm39)	V399M	probably benign	Het
Txndc2	T	A	17: 65,945,130 (GRCm39)	D349V	probably damaging	Het
Uggt2	T	A	14: 119,250,915 (GRCm39)	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,593,329 (GRCm39)	I53L	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	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
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	108,659,867 (GRCm39)	missense	probably benign	0.11
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'- AGAAGCCAGATCCTAGCTTCCTCC -3'
(R):5'- AGCCTTCAAGACTGTCAGCATTCG -3'

Sequencing Primer
(F):5'- TTCTTACAGCATAGAACACACAGTG -3'
(R):5'- TGGACCCCTGAAGAATTGCTC -3'

Posted On

2014-05-23