Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Axdnd1'

568582

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

9430070O13Rik, LOC381304

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

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

Stock #

R7014 (G1)

Quality Score

48.0072

Status

Validated

Chromosome

Chromosomal Location

156157985-156248743 bp(-) (GRCm39)

Type of Mutation

splice site (525 bp from exon)

DNA Base Change (assembly)

T to C at 156158532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027896] [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000193020] [ENSMUST00000212747] [ENSMUST00000213088]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027896

SMART Domains

Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC
PHB	125	284	7.31e-35	SMART

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

probably benign
Transcript: ENSMUST00000193020

SMART Domains

Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602

Domain	Start	End	E-Value	Type
PHB	50	201	7.6e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212747

Predicted Effect

probably benign
Transcript: ENSMUST00000213088

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Arid3a	G	T	10: 79,786,718 (GRCm39)	M488I	possibly damaging	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,557,277 (GRCm39)	E225G	probably damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Ctif	T	A	18: 75,570,279 (GRCm39)	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,480,575 (GRCm39)	Y139*	probably null	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Marchf8	C	G	6: 116,380,504 (GRCm39)	C118W	probably damaging	Het
Marchf8	T	G	6: 116,380,505 (GRCm39)	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	probably null	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
R6187:Axdnd1	UTSW	1	156,193,182 (GRCm39)	splice site	probably null
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
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'- TCAGAACTGTTCGTGGGCTG -3'
(R):5'- GTGTAGAGATGACACCCAGC -3'

Sequencing Primer
(F):5'- CGTGGGCTGTGCTTCTAAAAAGAC -3'
(R):5'- CCCCACAGCTGAATCCTTC -3'

Posted On

2019-08-28