Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Adck5'

596819

Institutional Source

Beutler Lab

Gene Symbol

Adck5

Ensembl Gene

ENSMUSG00000022550

Gene Name

aarF domain containing kinase 5

Synonyms

MMRRC Submission

045801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76460559-76480012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76478748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 345 (Q345L)

Ref Sequence

ENSEMBL: ENSMUSP00000125055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000162503] [ENSMUST00000230157] [ENSMUST00000231042]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071898

SMART Domains

Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022

Domain	Start	End	E-Value	Type
Pfam:MMS1_N	92	684	7.2e-42	PFAM
low complexity region	902	910	N/A	INTRINSIC
Pfam:CPSF_A	1071	1407	4.9e-94	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160784
AA Change: Q345L

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: Q345L

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	9.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161612

SMART Domains

Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161732

SMART Domains

Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162503
AA Change: Q345L

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: Q345L

Domain	Start	End	E-Value	Type
transmembrane domain	50	69	N/A	INTRINSIC
Pfam:ABC1	188	304	2.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229287

Predicted Effect

probably benign
Transcript: ENSMUST00000230157

Predicted Effect

probably benign
Transcript: ENSMUST00000231042

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	Het

Other mutations in Adck5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Adck5	APN	15	76,473,300 (GRCm39)	missense	possibly damaging	0.59
IGL01366:Adck5	APN	15	76,479,816 (GRCm39)	makesense	probably null
IGL01534:Adck5	APN	15	76,478,926 (GRCm39)	missense	probably damaging	1.00
IGL02066:Adck5	APN	15	76,479,406 (GRCm39)	missense	probably damaging	0.96
IGL02615:Adck5	APN	15	76,473,367 (GRCm39)	missense	possibly damaging	0.69
IGL02746:Adck5	APN	15	76,473,354 (GRCm39)	missense	probably benign	0.26
R0865:Adck5	UTSW	15	76,479,843 (GRCm39)	missense	probably damaging	0.98
R0946:Adck5	UTSW	15	76,477,486 (GRCm39)	missense	possibly damaging	0.82
R3714:Adck5	UTSW	15	76,478,138 (GRCm39)	missense	probably damaging	1.00
R3945:Adck5	UTSW	15	76,479,400 (GRCm39)	missense	probably damaging	1.00
R4373:Adck5	UTSW	15	76,478,535 (GRCm39)	unclassified	probably benign
R4377:Adck5	UTSW	15	76,478,535 (GRCm39)	unclassified	probably benign
R5343:Adck5	UTSW	15	76,479,780 (GRCm39)	missense	probably damaging	0.98
R5372:Adck5	UTSW	15	76,478,707 (GRCm39)	unclassified	probably benign
R5890:Adck5	UTSW	15	76,477,785 (GRCm39)	missense	probably damaging	1.00
R6151:Adck5	UTSW	15	76,478,887 (GRCm39)	missense	possibly damaging	0.81
R6277:Adck5	UTSW	15	76,477,463 (GRCm39)	missense	possibly damaging	0.58
R6530:Adck5	UTSW	15	76,478,047 (GRCm39)	missense	probably benign	0.00
R7163:Adck5	UTSW	15	76,478,016 (GRCm39)	missense	probably damaging	1.00
R7427:Adck5	UTSW	15	76,478,585 (GRCm39)	missense	possibly damaging	0.78
R7447:Adck5	UTSW	15	76,479,396 (GRCm39)	missense	possibly damaging	0.93
R7685:Adck5	UTSW	15	76,479,588 (GRCm39)	nonsense	probably null
R8912:Adck5	UTSW	15	76,477,435 (GRCm39)	missense	probably damaging	1.00
R9133:Adck5	UTSW	15	76,460,612 (GRCm39)	start gained	probably benign
R9664:Adck5	UTSW	15	76,478,383 (GRCm39)	missense	probably damaging	1.00
X0013:Adck5	UTSW	15	76,479,542 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GACAGCTGACTTCTGTAATGGC -3'
(R):5'- TCTAAGCTTCAGGAAGAGGGGC -3'

Sequencing Primer
(F):5'- CAGCTGACTTCTGTAATGGCTGTAAG -3'
(R):5'- GGCTTACTTCTCGTCCAGGAAC -3'

Posted On

2019-11-26