Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Axdnd1'

600007

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

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7793 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 156338743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000212747] [ENSMUST00000213088]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000177824

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601

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

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601

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

probably null
Transcript: ENSMUST00000212747

Predicted Effect

probably null
Transcript: ENSMUST00000213088

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,699,943	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,942,935	V143M	probably benign	Het
2610507B11Rik	C	T	11: 78,273,205	P1124L	possibly damaging	Het
Abca1	T	C	4: 53,042,367	I1902V	not run	Het
AI314180	T	C	4: 58,853,150	N395S	probably damaging	Het
Apob	A	C	12: 8,008,124	D2202A	probably damaging	Het
Arhgap44	T	A	11: 65,009,924	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,824,507	W713R	possibly damaging	Het
Bcl9l	T	C	9: 44,508,966	M1223T	probably benign	Het
Bcl9l	C	A	9: 44,509,697	H1467N	probably damaging	Het
Brinp3	A	G	1: 146,746,568	N236S	probably benign	Het
Cckbr	T	G	7: 105,433,591	L54V	probably benign	Het
Cd6	G	A	19: 10,798,358	Q246*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Ces3a	T	A	8: 105,055,661		probably null	Het
Cgnl1	T	A	9: 71,725,635	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,898,735	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,356,140	T103A	probably damaging	Het
Dip2a	A	T	10: 76,278,583	I1021N	probably benign	Het
Dnah2	T	C	11: 69,495,214	T981A	probably benign	Het
Dnah8	A	G	17: 30,855,944	I4546V	probably benign	Het
E2f8	A	C	7: 48,878,075	F106L	probably benign	Het
Eif4g1	G	A	16: 20,688,614	V1413I	probably benign	Het
Epha10	G	A	4: 124,914,453	V688I	probably benign	Het
Exoc2	A	T	13: 30,911,178	V245D	probably benign	Het
Eya4	T	A	10: 23,226,816	E23D	probably benign	Het
Fbxw10	T	A	11: 62,847,387	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,047,501	G44S	probably benign	Het
Gabrg3	T	A	7: 57,179,580	Q143L	probably benign	Het
Gm14412	A	C	2: 177,315,867	I78M	possibly damaging	Het
Gm35339	T	C	15: 76,359,107	L989P		Het
Gm3854	C	T	7: 6,353,887	S233L	probably damaging	Het
Gm7298	T	C	6: 121,760,604		probably null	Het
Hpse2	A	T	19: 43,388,070	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,471,764	H3R	probably benign	Het
Kansl1l	T	C	1: 66,778,014	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221	S532T	probably damaging	Het
Lrrtm4	T	C	6: 80,022,858	Y418H	probably damaging	Het
Mfng	G	A	15: 78,773,065	R70C	probably damaging	Het
Mx2	T	A	16: 97,546,883	I236K	probably damaging	Het
Mysm1	T	C	4: 94,965,132	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,245,400	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,725,074	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,423,918	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,891,581	R363W	probably benign	Het
Olfr139	T	A	11: 74,044,788	H162L	possibly damaging	Het
Olfr361	A	G	2: 37,084,921	F276L	possibly damaging	Het
Otud7b	A	T	3: 96,155,211	Y589F	probably benign	Het
P2rx1	T	A	11: 73,009,253	C165*	probably null	Het
Pax8	T	C	2: 24,429,597	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,106,432	V552I	probably benign	Het
Pde6c	G	T	19: 38,159,753	C485F	possibly damaging	Het
Pex5	T	C	6: 124,399,341	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,462,509		probably null	Het
Prss2	A	T	6: 41,524,952	D224V	possibly damaging	Het
Psd2	A	G	18: 36,002,979	N440S	probably benign	Het
Psmb3	T	A	11: 97,712,439	D159E	probably benign	Het
Ptgr2	T	G	12: 84,307,801	L252R	probably damaging	Het
Ptpro	A	T	6: 137,416,820	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 69,796,831	R315L	probably benign	Het
Rimbp2	A	T	5: 128,789,695	V520D	possibly damaging	Het
Schip1	A	T	3: 68,494,578	Y24F	probably benign	Het
Sdha	A	T	13: 74,331,436	V432E	probably damaging	Het
Sez6	T	C	11: 77,977,600	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,447,825	I466V	probably benign	Het
Skor1	T	C	9: 63,144,885	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,005,779	L219R	probably damaging	Het
Smok2a	T	C	17: 13,225,626	M30T	possibly damaging	Het
Sp8	A	G	12: 118,849,409	D333G	probably damaging	Het
Spp1	G	A	5: 104,440,334	D201N	probably damaging	Het
Sstr3	A	T	15: 78,540,388	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,623,113	N509K	probably benign	Het
Tdrd1	T	C	19: 56,864,377	V1030A	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Tgm3	G	A	2: 130,012,410		probably null	Het
Tomm5	C	A	4: 45,106,651	L88F	unknown	Het
Trak1	T	A	9: 121,416,198	C46*	probably null	Het
Trim8	A	T	19: 46,515,614	D535V	probably damaging	Het
Trpm7	A	T	2: 126,824,075	Y870*	probably null	Het
Tspoap1	T	C	11: 87,764,310	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,399,159		probably null	Het
Ttn	T	A	2: 76,732,045	I28819F	probably damaging	Het
Twf2	T	C	9: 106,211,880	S89P	probably damaging	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737	N1188K	unknown	Het
Utp6	C	T	11: 79,937,730	V528I	probably benign	Het
Vmn1r78	T	C	7: 12,153,314	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,632,269	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,477,544	M451T	probably benign	Het
Vwf	C	T	6: 125,686,520	P2808L		Het
Wwc1	T	C	11: 35,869,109	Q693R	probably benign	Het
Zfp658	T	A	7: 43,574,684	H794Q	possibly damaging	Het
Zfp882	A	G	8: 71,913,141	D8G	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
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
R8971:Axdnd1	UTSW	1	156391946	missense
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'- GTCCAACAGACCTACTTCCAT -3'
(R):5'- GTTACATTGCACAGGAAGCTTCA -3'

Sequencing Primer
(F):5'- GGGGGAAACTTATGCTAAATAATCAC -3'
(R):5'- CCTCCTATTGATGATGATACCGATG -3'

Posted On

2019-11-26