Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Axdnd1'

593062

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

9430070O13Rik, LOC381304

MMRRC Submission

045751-MU

Accession Numbers

Essential gene?

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

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156157985-156248743 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 156223034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 81 (C81*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000177824
AA Change: C209*

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: C209*

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
AA Change: C274*

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: C274*

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 null
Transcript: ENSMUST00000180173
AA Change: C81*

Predicted Effect

probably null
Transcript: ENSMUST00000213088
AA Change: C274*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,887,557 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,664,430 (GRCm39)	I347F		Het
Agmo	T	C	12: 37,469,973 (GRCm39)	V431A	probably benign	Het
Arl14epl	A	G	18: 47,065,523 (GRCm39)	D96G	probably damaging	Het
Asxl1	C	T	2: 153,233,534 (GRCm39)	S113F	probably damaging	Het
Bloc1s3	C	T	7: 19,241,531 (GRCm39)		probably benign	Het
Bmper	C	G	9: 23,310,840 (GRCm39)	L425V	probably benign	Het
Bok	A	T	1: 93,622,822 (GRCm39)	T194S	probably benign	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Brcc3dc	T	C	10: 108,535,301 (GRCm39)	E218G	probably damaging	Het
Brd10	A	T	19: 29,694,870 (GRCm39)	I1541N	probably benign	Het
Brpf3	T	C	17: 29,025,908 (GRCm39)	I327T	probably damaging	Het
Camk1	T	A	6: 113,313,158 (GRCm39)	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,227,937 (GRCm39)		probably null	Het
Ccdc171	A	T	4: 83,575,556 (GRCm39)	N480I	unknown	Het
Cd83	A	G	13: 43,938,848 (GRCm39)	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964 (GRCm39)	D243G	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Ctla4	A	T	1: 60,951,752 (GRCm39)	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Dhx32	A	T	7: 133,361,430 (GRCm39)	M1K	probably null	Het
Epha3	T	A	16: 63,593,651 (GRCm39)	I146F	probably damaging	Het
Erbb2	T	A	11: 98,326,399 (GRCm39)	S1008T	probably benign	Het
Esp34	A	G	17: 38,870,534 (GRCm39)	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,335,233 (GRCm39)	K654E	possibly damaging	Het
Fgr	T	C	4: 132,725,324 (GRCm39)	M343T	probably benign	Het
Fibcd1	T	G	2: 31,723,880 (GRCm39)	D253A	probably damaging	Het
Foxk1	C	T	5: 142,387,625 (GRCm39)	S116L	probably damaging	Het
Gimap8	G	A	6: 48,633,006 (GRCm39)	G275E	probably damaging	Het
Glp1r	T	C	17: 31,144,633 (GRCm39)	Y269H	probably damaging	Het
H2ac20	T	C	3: 96,127,886 (GRCm39)	E92G	probably damaging	Het
Lbr	A	G	1: 181,645,086 (GRCm39)	F522S	probably damaging	Het
Lca5	T	C	9: 83,277,292 (GRCm39)	N684S	probably benign	Het
Leng8	C	A	7: 4,146,504 (GRCm39)	S372*	probably null	Het
Lrp2	A	G	2: 69,319,581 (GRCm39)	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,389,062 (GRCm39)	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,866,332 (GRCm39)	T466A	probably benign	Het
Map3k19	A	T	1: 127,749,985 (GRCm39)	L1122*	probably null	Het
Mfsd6	T	C	1: 52,701,554 (GRCm39)	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,448,052 (GRCm39)	A301V	probably benign	Het
Mro	A	T	18: 74,010,510 (GRCm39)	M197L	probably benign	Het
Ncam2	A	T	16: 81,418,342 (GRCm39)	E799V	probably damaging	Het
Nek9	A	T	12: 85,350,433 (GRCm39)	D880E	probably benign	Het
Ntng1	T	A	3: 109,842,330 (GRCm39)	I148L	possibly damaging	Het
Or1ad6	A	G	11: 50,860,582 (GRCm39)	T246A	possibly damaging	Het
Or5ac23	T	A	16: 59,149,379 (GRCm39)	R164S	probably damaging	Het
P2ry13	C	T	3: 59,117,439 (GRCm39)	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,107,070 (GRCm39)	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,149,486 (GRCm39)	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,413,396 (GRCm39)	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,578,783 (GRCm39)	S496C	probably benign	Het
Prdm12	G	A	2: 31,530,229 (GRCm39)	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	A	T	6: 76,474,013 (GRCm39)	L201H	probably damaging	Het
Robo2	C	A	16: 73,755,293 (GRCm39)	V743F	probably damaging	Het
Scart1	T	A	7: 139,802,116 (GRCm39)	C148*	probably null	Het
Scart2	A	G	7: 139,828,965 (GRCm39)	N208S	probably benign	Het
Smg1	A	T	7: 117,767,081 (GRCm39)	Y1804N	unknown	Het
Ssh2	A	G	11: 77,316,150 (GRCm39)	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,410,589 (GRCm39)	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,645,154 (GRCm39)	D950G	probably damaging	Het
Syt10	T	C	15: 89,698,360 (GRCm39)	D328G	probably damaging	Het
Taf3	T	C	2: 9,956,299 (GRCm39)	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,518,255 (GRCm39)	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Tjp3	C	T	10: 81,113,885 (GRCm39)	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Tram1l1	T	C	3: 124,114,959 (GRCm39)	F40L	probably benign	Het
Ttc29	A	T	8: 79,119,759 (GRCm39)	T464S	probably benign	Het
Txndc9	A	T	1: 38,026,849 (GRCm39)	M192K	probably benign	Het
Urb2	C	A	8: 124,771,911 (GRCm39)	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075 (GRCm39)	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,590 (GRCm39)	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,589,744 (GRCm39)	I724N	probably damaging	Het
Xkr6	C	T	14: 63,844,295 (GRCm39)	T106M	possibly damaging	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp341	A	G	2: 154,466,781 (GRCm39)	E50G	probably damaging	Het
Zfp62	C	A	11: 49,107,985 (GRCm39)	A692E	probably damaging	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
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
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'- CAGGGTCCTTTCAGCAAAATCTTG -3'
(R):5'- CCAAGATTCTATAAGCCATGCTC -3'

Sequencing Primer
(F):5'- CTTGCTGGCATATGCAATTAAAAAC -3'
(R):5'- ATAAGCCATGCTCACTTTCAGCG -3'

Posted On

2019-11-12