Mutagenetix > Incidental Mutations

Incidental Mutation 'R2163:Axdnd1'

235250

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

LOC381304, 9430070O13Rik

MMRRC Submission

040166-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 156392003 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 337 (V337G)

Ref Sequence

ENSEMBL: ENSMUSP00000148420 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027895

Predicted Effect

probably damaging
Transcript: ENSMUST00000177824
AA Change: V272G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: V272G

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: V337G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: V337G

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

unknown
Transcript: ENSMUST00000180173
AA Change: V174G

Predicted Effect

probably damaging
Transcript: ENSMUST00000213088
AA Change: V337G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5396

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,576,826		probably benign	Het
2410089E03Rik	T	A	15: 8,203,251		probably null	Het
4930578I07Rik	C	A	14: 66,938,548	T64K	unknown	Het
Ablim2	T	C	5: 35,802,353		probably benign	Het
Acp4	T	C	7: 44,255,976	D107G	probably damaging	Het
Adamts2	T	A	11: 50,788,805	C871S	probably benign	Het
Adamts3	A	G	5: 89,708,718	V332A	probably damaging	Het
Alkal1	C	T	1: 6,389,512	T104M	probably benign	Het
Astn1	A	G	1: 158,502,150	S192G	probably damaging	Het
Baiap2l2	T	C	15: 79,259,195	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,362,319	T964I	probably damaging	Het
Carf	T	C	1: 60,147,486		probably benign	Het
Catsper2	T	C	2: 121,400,175	D295G	probably damaging	Het
Cdh1	A	G	8: 106,649,081	T84A	probably benign	Het
Chd8	T	A	14: 52,198,818	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,711,231	T284S	probably damaging	Het
Chtop	A	T	3: 90,502,211	M125K	probably benign	Het
Col14a1	T	A	15: 55,444,645		probably benign	Het
Cyp2b10	A	T	7: 25,925,385		probably benign	Het
Cyp2c70	G	A	19: 40,160,719	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,286,356	T77A	probably damaging	Het
Dnah6	A	T	6: 73,089,746		probably null	Het
Efhd1	A	T	1: 87,289,473	D104V	probably damaging	Het
Eif5b	A	T	1: 38,048,794	D957V	probably benign	Het
Eps15	T	A	4: 109,370,669	S549R	probably damaging	Het
Fbxo3	C	A	2: 104,054,985	H400N	probably benign	Het
Fcer1a	A	G	1: 173,222,697	V86A	probably damaging	Het
Fh1	A	G	1: 175,614,840	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,808,603	H466N	unknown	Het
Gadl1	T	A	9: 115,949,558	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,317,766		noncoding transcript	Het
Gm6614	G	A	6: 141,980,938	T554I	possibly damaging	Het
Hivep2	T	A	10: 14,128,226	Y189*	probably null	Het
Hoxd13	T	A	2: 74,669,069	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,078,538		probably benign	Het
Il1r1	A	G	1: 40,294,863	M198V	probably benign	Het
Katnal1	T	A	5: 148,888,936	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Mybpc1	T	C	10: 88,540,942		probably benign	Het
Mycbp2	A	G	14: 103,169,855		probably null	Het
Nell2	G	T	15: 95,429,978	N301K	probably damaging	Het
Nenf	T	A	1: 191,309,935	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,818,218	N293S	probably benign	Het
Nipbl	T	C	15: 8,336,919	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,453,397	F631L	probably benign	Het
Nrp1	T	A	8: 128,497,871	V705E	probably damaging	Het
Nsf	G	C	11: 103,863,333	A459G	possibly damaging	Het
Olfr1128	A	G	2: 87,544,894	S217P	probably damaging	Het
Olfr366	A	G	2: 37,220,077	E196G	probably damaging	Het
Pdia4	C	T	6: 47,798,407	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,541,801	Y192F	probably benign	Het
Pkd2	T	C	5: 104,455,677		probably benign	Het
Ppara	A	G	15: 85,801,046	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,865,086	N169K	probably damaging	Het
Prom1	T	A	5: 44,014,163	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,680,348	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,957,779	K263N	probably damaging	Het
Scn11a	T	G	9: 119,755,025	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,675,956	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,143,282		probably null	Het
Slc4a4	A	G	5: 89,214,576	I840V	probably damaging	Het
Slco1c1	T	A	6: 141,559,752	V419D	probably benign	Het
Sltm	T	A	9: 70,591,682	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,847	K266E	probably benign	Het
Syt15	A	G	14: 34,226,116	E306G	probably benign	Het
Tap1	A	T	17: 34,189,473		probably null	Het
Tbc1d16	G	C	11: 119,155,078		probably benign	Het
Tex47	T	C	5: 7,305,022	Y68H	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,812,501	T13264A	probably damaging	Het
Ubxn2a	A	T	12: 4,885,757	F131Y	probably damaging	Het
Usp40	T	C	1: 87,995,858		probably benign	Het
Vmn1r170	T	C	7: 23,607,037	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,808,927	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,885,015	E673*	probably null	Het
Zfr	T	A	15: 12,162,223	L820I	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
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	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
R7793:Axdnd1	UTSW	1	156338743	critical splice donor site	probably null
R7809:Axdnd1	UTSW	1	156392801	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'- CTTTACATGCCAGCCACCTG -3'
(R):5'- TAAAAGGTGTGCCTGCCACC -3'

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

Posted On

2014-10-01