Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Axdnd1'

502209

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

9430070O13Rik, LOC381304

MMRRC Submission

044327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156157985-156248743 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to A at 156193182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102782] [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000213088]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027895

Predicted Effect

probably benign
Transcript: ENSMUST00000102782

SMART Domains

Protein: ENSMUSP00000099843
Gene: ENSMUSG00000078193

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29	7	63	2.7e-22	PFAM
low complexity region	95	108	N/A	INTRINSIC

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000179572

Predicted Effect

probably null
Transcript: ENSMUST00000180173
AA Change: *471Y

Predicted Effect

probably null
Transcript: ENSMUST00000213088

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,729,377 (GRCm39)	T105S	probably damaging	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (GRCm39)		probably benign	Het

Other mutations in Axdnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03058:Axdnd1	APN	1	156,204,233 (GRCm39)	missense	probably benign	0.41
IGL03075:Axdnd1	APN	1	156,223,012 (GRCm39)	missense	probably damaging	1.00
IGL03165:Axdnd1	APN	1	156,205,959 (GRCm39)	missense	probably benign	0.00
R0164:Axdnd1	UTSW	1	156,205,956 (GRCm39)	missense	possibly damaging	0.93
R0164:Axdnd1	UTSW	1	156,205,956 (GRCm39)	missense	possibly damaging	0.93
R0739:Axdnd1	UTSW	1	156,208,456 (GRCm39)	missense	possibly damaging	0.73
R1087:Axdnd1	UTSW	1	156,193,259 (GRCm39)	missense	probably benign	0.08
R1350:Axdnd1	UTSW	1	156,205,950 (GRCm39)	critical splice donor site	probably null
R1488:Axdnd1	UTSW	1	156,176,530 (GRCm39)	missense	probably damaging	1.00
R1493:Axdnd1	UTSW	1	156,174,271 (GRCm39)	missense	probably benign	0.03
R1845:Axdnd1	UTSW	1	156,204,114 (GRCm39)	missense	possibly damaging	0.58
R1900:Axdnd1	UTSW	1	156,208,344 (GRCm39)	splice site	probably null
R2126:Axdnd1	UTSW	1	156,160,784 (GRCm39)	missense	probably benign	0.03
R2163:Axdnd1	UTSW	1	156,219,573 (GRCm39)	missense	probably damaging	1.00
R2169:Axdnd1	UTSW	1	156,245,879 (GRCm39)	missense	probably damaging	1.00
R2380:Axdnd1	UTSW	1	156,193,221 (GRCm39)	missense	probably benign	0.02
R2568:Axdnd1	UTSW	1	156,220,319 (GRCm39)	missense	possibly damaging	0.90
R3052:Axdnd1	UTSW	1	156,169,440 (GRCm39)	missense	probably damaging	0.96
R3053:Axdnd1	UTSW	1	156,169,440 (GRCm39)	missense	probably damaging	0.96
R3767:Axdnd1	UTSW	1	156,208,428 (GRCm39)	missense	probably damaging	1.00
R3927:Axdnd1	UTSW	1	156,246,840 (GRCm39)	missense	probably damaging	1.00
R3936:Axdnd1	UTSW	1	156,159,209 (GRCm39)	missense	probably benign	0.01
R4829:Axdnd1	UTSW	1	156,204,216 (GRCm39)	missense	possibly damaging	0.93
R4882:Axdnd1	UTSW	1	156,223,129 (GRCm39)	splice site	probably null
R4969:Axdnd1	UTSW	1	156,223,075 (GRCm39)	missense	possibly damaging	0.95
R5091:Axdnd1	UTSW	1	156,247,980 (GRCm39)	missense	possibly damaging	0.83
R5510:Axdnd1	UTSW	1	156,162,920 (GRCm39)	missense	probably benign	0.03
R5549:Axdnd1	UTSW	1	156,226,104 (GRCm39)	missense	probably damaging	1.00
R5587:Axdnd1	UTSW	1	156,178,982 (GRCm39)	missense	probably damaging	1.00
R5792:Axdnd1	UTSW	1	156,169,459 (GRCm39)	missense	probably damaging	0.99
R5840:Axdnd1	UTSW	1	156,176,528 (GRCm39)	missense	probably damaging	1.00
R6208:Axdnd1	UTSW	1	156,220,426 (GRCm39)	intron	probably benign
R6369:Axdnd1	UTSW	1	156,220,315 (GRCm39)	missense	probably damaging	1.00
R6493:Axdnd1	UTSW	1	156,208,383 (GRCm39)	missense	probably damaging	1.00
R7014:Axdnd1	UTSW	1	156,158,532 (GRCm39)	splice site	probably null
R7115:Axdnd1	UTSW	1	156,208,446 (GRCm39)	missense
R7203:Axdnd1	UTSW	1	156,209,959 (GRCm39)	missense	probably damaging	0.98
R7352:Axdnd1	UTSW	1	156,210,047 (GRCm39)	missense	possibly damaging	0.91
R7447:Axdnd1	UTSW	1	156,245,802 (GRCm39)	critical splice donor site	probably null
R7470:Axdnd1	UTSW	1	156,204,086 (GRCm39)	missense
R7686:Axdnd1	UTSW	1	156,223,034 (GRCm39)	nonsense	probably null
R7793:Axdnd1	UTSW	1	156,166,313 (GRCm39)	critical splice donor site	probably null
R7809:Axdnd1	UTSW	1	156,220,371 (GRCm39)	nonsense	probably null
R7882:Axdnd1	UTSW	1	156,225,023 (GRCm39)	missense
R8256:Axdnd1	UTSW	1	156,158,236 (GRCm39)	missense	unknown
R8348:Axdnd1	UTSW	1	156,245,854 (GRCm39)	missense	probably benign	0.02
R8971:Axdnd1	UTSW	1	156,219,516 (GRCm39)	missense
R9207:Axdnd1	UTSW	1	156,215,616 (GRCm39)	missense
R9294:Axdnd1	UTSW	1	156,247,917 (GRCm39)	nonsense	probably null
R9741:Axdnd1	UTSW	1	156,169,385 (GRCm39)	missense	probably benign	0.18
X0009:Axdnd1	UTSW	1	156,215,649 (GRCm39)	missense	possibly damaging	0.61
X0067:Axdnd1	UTSW	1	156,204,105 (GRCm39)	missense	possibly damaging	0.67
Z1176:Axdnd1	UTSW	1	156,176,633 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTGTTGAAGACTTTCAGC -3'
(R):5'- CCAAACTTGGTCATTTCTTTGGAC -3'

Sequencing Primer
(F):5'- CAGCCACTGGTAATTCGTGAG -3'
(R):5'- AACTTGGTCATTTCTTTGGACATGTG -3'

Posted On

2018-02-27