Mutagenetix > Incidental Mutations

Incidental Mutation 'R5510:Axdnd1'

431116

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

LOC381304, 9430070O13Rik

MMRRC Submission

043071-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156335350 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 144 (F144S)

Ref Sequence

ENSEMBL: ENSMUSP00000148583 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177824
AA Change: F767S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: F767S

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: F869S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: F869S

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: ENSMUST00000212342

Predicted Effect

probably benign
Transcript: ENSMUST00000212747
AA Change: F144S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

unknown
Transcript: ENSMUST00000213088
AA Change: F980S

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

MGI Phenotype

Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age.,NO_PHENOTYPE

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
1700014D04Rik	T	C	13: 59,742,420		probably null	Het
Adgrl4	T	G	3: 151,497,830	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,445,244	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,906,529		probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,729,693	V392A	probably benign	Het
Ap2b1	A	G	11: 83,336,737		probably null	Het
Arsg	A	G	11: 109,527,874	E232G	probably benign	Het
Bud13	T	A	9: 46,292,200	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,013	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046	T1194A	probably damaging	Het
Ccdc88c	T	C	12: 100,945,031	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,672,099	W176R	probably damaging	Het
Cenpf	A	T	1: 189,682,903	D136E	probably benign	Het
Dclk2	T	C	3: 86,906,037	I201V	possibly damaging	Het
Defa24	T	A	8: 21,734,596	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,277,175	N566D	probably damaging	Het
Dido1	C	A	2: 180,685,173	V386L	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,192,938	P141S	probably benign	Het
Fmn1	T	C	2: 113,596,369	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113	L535P	probably damaging	Het
Gimap3	T	A	6: 48,765,249	E249V	possibly damaging	Het
Git2	A	T	5: 114,743,774		probably null	Het
Gm4922	T	C	10: 18,783,997	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,828,196	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,082,118	G31S	possibly damaging	Het
Herc2	A	T	7: 56,206,771	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 31,946,747	R134C	unknown	Het
Igf1r	G	C	7: 68,193,359	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,681,459	E102G	probably damaging	Het
Kif1a	T	G	1: 93,041,692	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,848,624	L245S	probably damaging	Het
Med17	A	G	9: 15,270,404	S17P	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps18b	A	G	17: 35,914,323		probably benign	Het
Ms4a8a	A	G	19: 11,079,464	S85P	probably benign	Het
Msln	T	C	17: 25,749,873	Q487R	probably benign	Het
Myh13	A	G	11: 67,337,723	N363S	probably benign	Het
Myo6	T	C	9: 80,245,660	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,814,020	D688G	probably damaging	Het
Nsun4	C	T	4: 116,051,777	V529I	possibly damaging	Het
Olfr105-ps	A	T	17: 37,383,301	M245L	probably benign	Het
Olfr345	G	A	2: 36,640,963	R308K	probably benign	Het
Olfr495	G	A	7: 108,395,125	A2T	probably benign	Het
Phf11a	C	A	14: 59,279,385	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,566,847	C520Y	probably benign	Het
Plxna4	C	A	6: 32,178,358	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,521,397	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,249,627	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,272,936		probably null	Het
Prss55	T	A	14: 64,077,125	M199L	probably damaging	Het
Qrich1	G	A	9: 108,556,460	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,776,945	V47A	probably damaging	Het
Raph1	A	T	1: 60,522,946		probably benign	Het
Rgs12	T	C	5: 34,966,039	Y389H	probably damaging	Het
Sec24b	C	A	3: 130,040,895	G82V	probably damaging	Het
Sema4a	A	G	3: 88,449,986		probably null	Het
Slc25a11	A	T	11: 70,645,535	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,160,094	S340A	probably benign	Het
Slc32a1	T	A	2: 158,614,796	M457K	probably damaging	Het
Spint4	C	T	2: 164,700,892	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,738,303	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,333,395	G863D	probably damaging	Het
Tmem156	G	A	5: 65,075,574	T151M	probably benign	Het
Trip12	T	C	1: 84,768,680	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,386,121	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 10,102,618	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 85,151,815	D304E	probably benign	Het
Wdr93	T	A	7: 79,750,031	F123I	probably damaging	Het
Zfp672	A	T	11: 58,316,630	C288*	probably null	Het
Zp1	T	C	19: 10,919,405	Y90C	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
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	intron	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
X0009:Axdnd1	UTSW	1	156388079	missense	possibly damaging	0.61
X0067:Axdnd1	UTSW	1	156376535	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- ATATGCCTCAGTACAGGGGAAC -3'
(R):5'- AGTTTCAGACAGGCTCTGGG -3'

Sequencing Primer
(F):5'- CTCAGTACAGGGGAACGCCAG -3'
(R):5'- AGACAGGCTCTGGGTGACTG -3'

Posted On

2016-10-05