Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Aknad1'

461451

Institutional Source

Beutler Lab

Gene Symbol

Aknad1

Ensembl Gene

ENSMUSG00000049565

Gene Name

AKNA domain containing 1

Synonyms

4921525H12Rik

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R5918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108646974-108689625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108659703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 239 (P239L)

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: P239L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: P239L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133931
AA Change: P239L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: P239L

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

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
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Gpa33	T	C	1: 165,958,107 (GRCm39)		probably null	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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	108,659,867 (GRCm39)	missense	probably benign	0.11
R5191:Aknad1	UTSW	3	108,659,306 (GRCm39)	missense	probably benign	0.04
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'- CCCAGTCCCCAAAATGGTTC -3'
(R):5'- TCAACACGATTTGACCCAGACG -3'

Sequencing Primer
(F):5'- TGGTTCAATAAATAGCAGCAAGC -3'
(R):5'- GACCCAGACGTGGTTCCTAAATTATC -3'

Posted On

2017-02-28