Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Axdnd1'

683054

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

LOC381304, 9430070O13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156391946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 193 (A193V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000213088]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177824
AA Change: A291V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: A291V

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	131	314	2.4e-12	PFAM
low complexity region	405	414	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC
coiled coil region	787	837	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178036
AA Change: A356V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: A356V

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	196	380	3.3e-14	PFAM
low complexity region	470	479	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
coiled coil region	889	939	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213088
AA Change: A356V

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,514,426	H44R	unknown	Het
Acp6	C	T	3: 97,171,645	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,135,523	N97S	possibly damaging	Het
Afm	T	A	5: 90,548,816	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,653,793	D927E	probably benign	Het
Ap2a2	T	C	7: 141,611,345	V275A	probably benign	Het
Arfgef2	A	T	2: 166,859,301	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,997	F814L	probably damaging	Het
Bicra	T	A	7: 15,987,556	I679L	probably benign	Het
Ccm2l	G	A	2: 153,067,836	R36H	probably damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Cela3a	C	T	4: 137,405,911	G50D	probably benign	Het
Cep152	T	A	2: 125,579,850	R987*	probably null	Het
Cnnm2	T	C	19: 46,856,923	V618A	probably benign	Het
Crim1	G	A	17: 78,345,980	R593Q	possibly damaging	Het
Ctsc	A	G	7: 88,309,816	S435G	probably benign	Het
Dcbld1	G	T	10: 52,319,862	A460S	probably benign	Het
Dcbld2	A	G	16: 58,456,352	E502G	probably benign	Het
Dhx30	A	T	9: 110,084,445	L1207*	probably null	Het
Dlx2	A	T	2: 71,546,372	S7R	possibly damaging	Het
Dmwd	T	A	7: 19,081,048	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,864,508	L588V	possibly damaging	Het
Dmxl1	C	T	18: 49,893,674	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,709,321	L3339*	probably null	Het
Elovl1	C	A	4: 118,431,512	P160Q	probably damaging	Het
Epg5	T	A	18: 77,979,219	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,352,709	S53F	probably benign	Het
Fat1	T	A	8: 45,042,294	C4140S	probably damaging	Het
Gria2	C	T	3: 80,707,893	V427I	probably damaging	Het
H2al2a	C	A	2: 17,996,726	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,681,859	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,484,466		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,096,359	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,247,816	D553E	probably damaging	Het
Kif3a	T	A	11: 53,583,362	L251Q	probably damaging	Het
Klb	T	A	5: 65,375,683	I445K	probably damaging	Het
Klhl29	T	A	12: 5,140,710		probably null	Het
Lipf	A	G	19: 33,964,873	K68E	probably benign	Het
Lnx2	T	A	5: 147,033,426	I169L	probably benign	Het
Lrba	A	C	3: 86,615,081	I2223L	probably benign	Het
Lrp1	C	T	10: 127,556,027	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,435,628	T926A		Het
Lrrc37a	T	A	11: 103,500,664	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,739,846	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,141	V122A	probably damaging	Het
Lsm14b	T	C	2: 180,025,314		probably null	Het
Magel2	A	C	7: 62,380,251	I968L	unknown	Het
Mapkbp1	T	C	2: 120,019,569	V771A	probably benign	Het
Mtmr4	T	C	11: 87,602,800	S295P	probably benign	Het
Nanos3	T	A	8: 84,176,186	T116S	probably benign	Het
Nectin3	T	C	16: 46,448,902	D379G	probably benign	Het
Nelfa	T	C	5: 33,936,195	H14R	possibly damaging	Het
Nnt	A	G	13: 119,366,431	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Olfr1026	T	C	2: 85,923,984	S239P	probably damaging	Het
Olfr1220	T	A	2: 89,097,547	K127*	probably null	Het
Olfr153	T	A	2: 87,532,236	C68S	probably benign	Het
Olfr308	T	A	7: 86,321,161	I264F	possibly damaging	Het
Olfr656	A	T	7: 104,618,260	T194S	probably damaging	Het
Palld	A	T	8: 61,516,701	D1196E	unknown	Het
Parl	A	G	16: 20,298,159	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,847,556	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,529,519	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,675,365	E712G	probably null	Het
Rasgrf2	T	C	13: 92,021,717	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,955,835	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,132,136		probably benign	Het
Rmnd5b	T	C	11: 51,624,495	S315G	probably benign	Het
Rp1l1	T	A	14: 64,021,996	V29E	probably damaging	Het
Sclt1	T	C	3: 41,727,106	T93A	probably benign	Het
Shroom1	T	A	11: 53,465,167	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,786	K545E	probably benign	Het
Slc20a2	C	T	8: 22,540,380	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,988,892	Y447C	probably damaging	Het
Slu7	C	A	11: 43,442,653	Q367K	probably benign	Het
Spen	T	C	4: 141,474,578	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,265,219	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,360,060	V530A		Het
Tnrc6c	T	C	11: 117,749,263	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 20,847,059	T170I	possibly damaging	Het
Vps29	A	G	5: 122,360,149	D51G	probably benign	Het
Washc2	T	C	6: 116,254,438	L874P	probably damaging	Het
Wdr5b	T	C	16: 36,041,556	L15P	probably benign	Het
Zscan20	T	A	4: 128,586,054	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,586,055	Q881P	probably damaging	Het

Other mutations in Axdnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03058:Axdnd1	APN	1	156376663	missense	probably benign	0.41
IGL03075:Axdnd1	APN	1	156395442	missense	probably damaging	1.00
IGL03165:Axdnd1	APN	1	156378389	missense	probably benign	0.00
R0164:Axdnd1	UTSW	1	156378386	missense	possibly damaging	0.93
R0164:Axdnd1	UTSW	1	156378386	missense	possibly damaging	0.93
R0739:Axdnd1	UTSW	1	156380886	missense	possibly damaging	0.73
R1087:Axdnd1	UTSW	1	156365689	missense	probably benign	0.08
R1350:Axdnd1	UTSW	1	156378380	critical splice donor site	probably null
R1488:Axdnd1	UTSW	1	156348960	missense	probably damaging	1.00
R1493:Axdnd1	UTSW	1	156346701	missense	probably benign	0.03
R1845:Axdnd1	UTSW	1	156376544	missense	possibly damaging	0.58
R1900:Axdnd1	UTSW	1	156380774	splice site	probably null
R2126:Axdnd1	UTSW	1	156333214	missense	probably benign	0.03
R2163:Axdnd1	UTSW	1	156392003	missense	probably damaging	1.00
R2169:Axdnd1	UTSW	1	156418309	missense	probably damaging	1.00
R2380:Axdnd1	UTSW	1	156365651	missense	probably benign	0.02
R2568:Axdnd1	UTSW	1	156392749	missense	possibly damaging	0.90
R3052:Axdnd1	UTSW	1	156341870	missense	probably damaging	0.96
R3053:Axdnd1	UTSW	1	156341870	missense	probably damaging	0.96
R3767:Axdnd1	UTSW	1	156380858	missense	probably damaging	1.00
R3927:Axdnd1	UTSW	1	156419270	missense	probably damaging	1.00
R3936:Axdnd1	UTSW	1	156331639	missense	probably benign	0.01
R4829:Axdnd1	UTSW	1	156376646	missense	possibly damaging	0.93
R4882:Axdnd1	UTSW	1	156395559	splice site	probably null
R4969:Axdnd1	UTSW	1	156395505	missense	possibly damaging	0.95
R5091:Axdnd1	UTSW	1	156420410	missense	possibly damaging	0.83
R5510:Axdnd1	UTSW	1	156335350	missense	probably benign	0.03
R5549:Axdnd1	UTSW	1	156398534	missense	probably damaging	1.00
R5587:Axdnd1	UTSW	1	156351412	missense	probably damaging	1.00
R5792:Axdnd1	UTSW	1	156341889	missense	probably damaging	0.99
R5840:Axdnd1	UTSW	1	156348958	missense	probably damaging	1.00
R6187:Axdnd1	UTSW	1	156365612	splice site	probably null
R6208:Axdnd1	UTSW	1	156392856	intron	probably benign
R6369:Axdnd1	UTSW	1	156392745	missense	probably damaging	1.00
R6493:Axdnd1	UTSW	1	156380813	missense	probably damaging	1.00
R7014:Axdnd1	UTSW	1	156330962	splice site	probably null
R7115:Axdnd1	UTSW	1	156380876	missense
R7203:Axdnd1	UTSW	1	156382389	missense	probably damaging	0.98
R7352:Axdnd1	UTSW	1	156382477	missense	possibly damaging	0.91
R7447:Axdnd1	UTSW	1	156418232	critical splice donor site	probably null
R7470:Axdnd1	UTSW	1	156376516	missense
R7686:Axdnd1	UTSW	1	156395464	nonsense	probably null
R7793:Axdnd1	UTSW	1	156338743	critical splice donor site	probably null
R7809:Axdnd1	UTSW	1	156392801	nonsense	probably null
R7882:Axdnd1	UTSW	1	156397453	missense
R8256:Axdnd1	UTSW	1	156330666	missense	unknown
R8348:Axdnd1	UTSW	1	156418284	missense	probably benign	0.02
R9207:Axdnd1	UTSW	1	156388046	missense
R9294:Axdnd1	UTSW	1	156420347	nonsense	probably null
R9741:Axdnd1	UTSW	1	156341815	missense	probably benign	0.18
X0009:Axdnd1	UTSW	1	156388079	missense	possibly damaging	0.61
X0067:Axdnd1	UTSW	1	156376535	missense	possibly damaging	0.67
Z1176:Axdnd1	UTSW	1	156349063	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTCAAGCTTCCGCACAG -3'
(R):5'- TAAAAGGTGTGCCTGCCACC -3'

Sequencing Primer
(F):5'- CAGCCCTAAGAAGCAGGTGAC -3'
(R):5'- AGGTGTGCCTGCCACCTAATG -3'

Posted On

2021-10-11