Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Axdnd1'

372631

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

LOC381304, 9430070O13Rik

MMRRC Submission

042445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 156376646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 547 (R547S)

Ref Sequence

ENSEMBL: ENSMUSP00000137354 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027895

Predicted Effect

probably benign
Transcript: ENSMUST00000177824
AA Change: R482S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: R482S

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

possibly damaging
Transcript: ENSMUST00000178036
AA Change: R547S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: R547S

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

unknown
Transcript: ENSMUST00000180173
AA Change: R350S

Predicted Effect

probably benign
Transcript: ENSMUST00000213088
AA Change: R547S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,019	V1323A	probably damaging	Het
1700029J07Rik	T	C	8: 45,967,915	I159V	probably damaging	Het
1700061G19Rik	A	G	17: 56,883,500		probably null	Het
Abcb1a	T	C	5: 8,723,214	L814P	probably damaging	Het
Acat1	C	A	9: 53,591,456	G191V	probably damaging	Het
Adamts20	A	T	15: 94,326,396	D1184E	probably benign	Het
Adssl1	T	C	12: 112,634,713	L283P	probably damaging	Het
Arid4a	A	G	12: 71,023,498		probably null	Het
Arid4b	T	A	13: 14,184,438	D599E	probably benign	Het
AW146154	T	C	7: 41,480,633	K353R	possibly damaging	Het
BC067074	A	G	13: 113,368,162	I1942V	probably benign	Het
BC147527	G	A	13: 120,308,390	C82Y	possibly damaging	Het
Bcat1	A	T	6: 145,015,475	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,779,997		probably benign	Het
Catsperg2	T	G	7: 29,701,125	K268T	probably damaging	Het
Ccar1	A	C	10: 62,745,335	F1103L	unknown	Het
Ccdc141	T	A	2: 77,074,916	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,990,583	T16A	probably benign	Het
Cdca2	T	A	14: 67,693,753		probably null	Het
Cntn5	T	G	9: 9,976,283	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,557,586	A202E	unknown	Het
Csmd1	G	A	8: 16,127,296	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 53,895,823	A16V	possibly damaging	Het
Dab2	A	G	15: 6,424,681	D224G	probably damaging	Het
Ddr1	A	T	17: 35,685,113	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,889,056	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,842,753	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,837,917	I81S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Fat1	C	T	8: 45,036,162	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,584,709	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,518,591	M548L	probably benign	Het
Fstl5	T	C	3: 76,322,182	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,200,350	S481T	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gp2	A	T	7: 119,457,184	V22E	possibly damaging	Het
Grin1	A	G	2: 25,318,724	S55P	possibly damaging	Het
Herc2	A	G	7: 56,106,492	D760G	probably benign	Het
Hpn	A	G	7: 31,098,875		probably benign	Het
Hsf2	T	C	10: 57,496,170	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,937,168	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,507,726	K57R	probably benign	Het
Klc1	T	C	12: 111,795,603	I569T	probably damaging	Het
Klra3	T	G	6: 130,323,616	K263N	probably benign	Het
Lrcol1	C	A	5: 110,354,527	H90N	probably benign	Het
Mamdc4	T	C	2: 25,565,356	E921G	possibly damaging	Het
Mark1	G	A	1: 184,905,527	R622W	possibly damaging	Het
Mdga1	A	G	17: 29,846,369	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729		probably null	Het
Mtnr1a	T	C	8: 45,085,615		probably benign	Het
Myo5a	T	C	9: 75,136,407	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,415,227	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,214,010		probably null	Het
Nxph3	T	C	11: 95,511,495	E31G	probably benign	Het
Obscn	T	C	11: 59,054,246	I4649V	probably null	Het
Olfr1100	G	A	2: 86,978,574	S74L	probably damaging	Het
Olfr875	G	T	9: 37,772,947	C96F	probably damaging	Het
Olfr955	A	T	9: 39,470,367	Y120N	probably damaging	Het
Olfr960	A	T	9: 39,623,438	H103L	probably damaging	Het
P3h3	G	A	6: 124,841,638		probably benign	Het
Pcnx2	A	T	8: 125,861,058		probably null	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,266,743	S792P	probably damaging	Het
Plppr4	A	T	3: 117,335,591	L76M	possibly damaging	Het
Ppp2r3a	A	T	9: 101,212,510	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,702,075	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,182	S196L	probably benign	Het
Ptpn21	A	C	12: 98,689,296	S471A	probably damaging	Het
Ptprk	C	A	10: 28,580,484	S9*	probably null	Het
Rassf4	A	T	6: 116,645,142	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,103,888	R142S	probably damaging	Het
Rit2	C	A	18: 31,212,673	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,989,687	S187A	probably benign	Het
Rspo2	A	T	15: 43,093,187	Y83*	probably null	Het
Scn5a	C	T	9: 119,534,707	V456M	probably benign	Het
Scn9a	T	A	2: 66,551,713	H290L	probably benign	Het
Smarca4	T	C	9: 21,639,327	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612	I198K	probably damaging	Het
Smim14	G	A	5: 65,460,603		probably benign	Het
Spg11	A	C	2: 122,108,455	N339K	probably benign	Het
Spta1	A	G	1: 174,237,927	E2014G	probably benign	Het
Stk4	T	C	2: 164,099,827		probably null	Het
Sypl	C	T	12: 32,967,646	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,657,368	F138I	probably benign	Het
Tet2	A	C	3: 133,476,620	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,855,668		probably benign	Het
Tnfrsf22	T	A	7: 143,643,330	T91S	possibly damaging	Het
Tnik	A	T	3: 28,539,541		probably benign	Het
Tnr	A	T	1: 159,858,404	I402F	probably benign	Het
Unc93b1	A	T	19: 3,944,293	S475C	probably damaging	Het
Utrn	T	A	10: 12,663,461	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,735,665		noncoding transcript	Het
Vmn2r101	G	A	17: 19,611,967	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,247,801	L3P	possibly damaging	Het
Zfp882	T	G	8: 71,914,389	H353Q	probably damaging	Het

Other mutations in Axdnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03058:Axdnd1	APN	1	156,376,663 (GRCm38)	missense	probably benign	0.41
IGL03075:Axdnd1	APN	1	156,395,442 (GRCm38)	missense	probably damaging	1.00
IGL03165:Axdnd1	APN	1	156,378,389 (GRCm38)	missense	probably benign	0.00
R0164:Axdnd1	UTSW	1	156,378,386 (GRCm38)	missense	possibly damaging	0.93
R0164:Axdnd1	UTSW	1	156,378,386 (GRCm38)	missense	possibly damaging	0.93
R0739:Axdnd1	UTSW	1	156,380,886 (GRCm38)	missense	possibly damaging	0.73
R1087:Axdnd1	UTSW	1	156,365,689 (GRCm38)	missense	probably benign	0.08
R1350:Axdnd1	UTSW	1	156,378,380 (GRCm38)	critical splice donor site	probably null
R1488:Axdnd1	UTSW	1	156,348,960 (GRCm38)	missense	probably damaging	1.00
R1493:Axdnd1	UTSW	1	156,346,701 (GRCm38)	missense	probably benign	0.03
R1845:Axdnd1	UTSW	1	156,376,544 (GRCm38)	missense	possibly damaging	0.58
R1900:Axdnd1	UTSW	1	156,380,774 (GRCm38)	splice site	probably null
R2126:Axdnd1	UTSW	1	156,333,214 (GRCm38)	missense	probably benign	0.03
R2163:Axdnd1	UTSW	1	156,392,003 (GRCm38)	missense	probably damaging	1.00
R2169:Axdnd1	UTSW	1	156,418,309 (GRCm38)	missense	probably damaging	1.00
R2380:Axdnd1	UTSW	1	156,365,651 (GRCm38)	missense	probably benign	0.02
R2568:Axdnd1	UTSW	1	156,392,749 (GRCm38)	missense	possibly damaging	0.90
R3052:Axdnd1	UTSW	1	156,341,870 (GRCm38)	missense	probably damaging	0.96
R3053:Axdnd1	UTSW	1	156,341,870 (GRCm38)	missense	probably damaging	0.96
R3767:Axdnd1	UTSW	1	156,380,858 (GRCm38)	missense	probably damaging	1.00
R3927:Axdnd1	UTSW	1	156,419,270 (GRCm38)	missense	probably damaging	1.00
R3936:Axdnd1	UTSW	1	156,331,639 (GRCm38)	missense	probably benign	0.01
R4882:Axdnd1	UTSW	1	156,395,559 (GRCm38)	splice site	probably null
R4969:Axdnd1	UTSW	1	156,395,505 (GRCm38)	missense	possibly damaging	0.95
R5091:Axdnd1	UTSW	1	156,420,410 (GRCm38)	missense	possibly damaging	0.83
R5510:Axdnd1	UTSW	1	156,335,350 (GRCm38)	missense	probably benign	0.03
R5549:Axdnd1	UTSW	1	156,398,534 (GRCm38)	missense	probably damaging	1.00
R5587:Axdnd1	UTSW	1	156,351,412 (GRCm38)	missense	probably damaging	1.00
R5792:Axdnd1	UTSW	1	156,341,889 (GRCm38)	missense	probably damaging	0.99
R5840:Axdnd1	UTSW	1	156,348,958 (GRCm38)	missense	probably damaging	1.00
R6187:Axdnd1	UTSW	1	156,365,612 (GRCm38)	splice site	probably null
R6208:Axdnd1	UTSW	1	156,392,856 (GRCm38)	intron	probably benign
R6369:Axdnd1	UTSW	1	156,392,745 (GRCm38)	missense	probably damaging	1.00
R6493:Axdnd1	UTSW	1	156,380,813 (GRCm38)	missense	probably damaging	1.00
R7014:Axdnd1	UTSW	1	156,330,962 (GRCm38)	splice site	probably null
R7115:Axdnd1	UTSW	1	156,380,876 (GRCm38)	missense
R7203:Axdnd1	UTSW	1	156,382,389 (GRCm38)	missense	probably damaging	0.98
R7352:Axdnd1	UTSW	1	156,382,477 (GRCm38)	missense	possibly damaging	0.91
R7447:Axdnd1	UTSW	1	156,418,232 (GRCm38)	critical splice donor site	probably null
R7470:Axdnd1	UTSW	1	156,376,516 (GRCm38)	missense
R7686:Axdnd1	UTSW	1	156,395,464 (GRCm38)	nonsense	probably null
R7793:Axdnd1	UTSW	1	156,338,743 (GRCm38)	critical splice donor site	probably null
R7809:Axdnd1	UTSW	1	156,392,801 (GRCm38)	nonsense	probably null
R7882:Axdnd1	UTSW	1	156,397,453 (GRCm38)	missense
R8256:Axdnd1	UTSW	1	156,330,666 (GRCm38)	missense	unknown
R8348:Axdnd1	UTSW	1	156,418,284 (GRCm38)	missense	probably benign	0.02
R8971:Axdnd1	UTSW	1	156,391,946 (GRCm38)	missense
R9207:Axdnd1	UTSW	1	156,388,046 (GRCm38)	missense
R9294:Axdnd1	UTSW	1	156,420,347 (GRCm38)	nonsense	probably null
R9741:Axdnd1	UTSW	1	156,341,815 (GRCm38)	missense	probably benign	0.18
X0009:Axdnd1	UTSW	1	156,388,079 (GRCm38)	missense	possibly damaging	0.61
X0067:Axdnd1	UTSW	1	156,376,535 (GRCm38)	missense	possibly damaging	0.67
Z1176:Axdnd1	UTSW	1	156,349,063 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGCATTCAACATTGTGATTACTG -3'
(R):5'- GGCAAACTCGGATTGATGATGATG -3'

Sequencing Primer
(F):5'- ACTGTTAAGATTCTTGGCATTGC -3'
(R):5'- CTCGGATTGATGATGATGGTGATATC -3'

Posted On

2016-03-01