Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Axdnd1'

579082

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

9430070O13Rik, LOC381304

MMRRC Submission

045544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156157985-156248743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156204086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 393 (E393V)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000177824
AA Change: E525V

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

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: E525V

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 damaging
Transcript: ENSMUST00000178036
AA Change: E590V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: E590V

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 damaging
Transcript: ENSMUST00000213088
AA Change: E590V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,898,622 (GRCm39)	V238E	possibly damaging	Het
Actn3	G	A	19: 4,917,842 (GRCm39)	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,319,810 (GRCm39)	T476A	probably benign	Het
Afm	T	A	5: 90,679,486 (GRCm39)	S327T	probably damaging	Het
Apol7e	T	A	15: 77,602,143 (GRCm39)	M247K	probably benign	Het
Aqp12	T	A	1: 92,936,385 (GRCm39)	L237Q	probably damaging	Het
Arhgef12	A	T	9: 42,951,848 (GRCm39)	S63T	probably damaging	Het
Cacna1g	T	A	11: 94,352,765 (GRCm39)	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,036,383 (GRCm39)	V180M	possibly damaging	Het
Cd47	T	A	16: 49,704,585 (GRCm39)	I119K		Het
Cenpe	A	T	3: 134,947,916 (GRCm39)	L1158F	probably damaging	Het
Cfi	A	G	3: 129,648,736 (GRCm39)	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,423,708 (GRCm39)	Y220C	probably benign	Het
Ddhd2	A	G	8: 26,225,087 (GRCm39)	F577L	probably benign	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Disp3	A	T	4: 148,345,527 (GRCm39)	C438S	possibly damaging	Het
Dock3	A	G	9: 106,882,644 (GRCm39)	S380P	probably damaging	Het
Ehmt2	A	G	17: 35,118,372 (GRCm39)	E106G	possibly damaging	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Gm11554	A	C	11: 99,695,190 (GRCm39)	S8A	unknown	Het
Grm7	A	G	6: 111,478,476 (GRCm39)	I54V		Het
Hbs1l	T	C	10: 21,234,683 (GRCm39)	F579L	possibly damaging	Het
Hgf	C	A	5: 16,823,854 (GRCm39)	Q684K	probably benign	Het
Igsf3	T	C	3: 101,358,391 (GRCm39)	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,719,990 (GRCm39)	G304W	probably damaging	Het
Ino80c	C	T	18: 24,241,895 (GRCm39)	W163*	probably null	Het
Kcnt1	A	C	2: 25,799,845 (GRCm39)	D997A	probably damaging	Het
Klf7	C	T	1: 64,081,472 (GRCm39)		probably null	Het
Lingo1	T	C	9: 56,527,908 (GRCm39)	Y233C	probably damaging	Het
Lmo7	C	A	14: 102,138,040 (GRCm39)	T914K	possibly damaging	Het
Mark1	G	T	1: 184,660,241 (GRCm39)	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,344,231 (GRCm39)	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,529,582 (GRCm39)	I131T	probably benign	Het
Mipep	A	G	14: 61,040,344 (GRCm39)	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,053,714 (GRCm39)	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,809,456 (GRCm39)	E232G	probably benign	Het
Nat10	C	T	2: 103,565,226 (GRCm39)	A452T	probably benign	Het
Nfatc2	G	A	2: 168,365,227 (GRCm39)	Q596*	probably null	Het
Nudt13	G	T	14: 20,359,791 (GRCm39)	G173W	probably damaging	Het
Or10n1	C	A	9: 39,524,998 (GRCm39)	T45K	probably benign	Het
Or1e16	T	A	11: 73,286,714 (GRCm39)	I45F	probably damaging	Het
Or5l14	A	T	2: 87,792,793 (GRCm39)	C148S	possibly damaging	Het
Or8b4	T	A	9: 37,830,592 (GRCm39)	I213N	probably damaging	Het
Otud4	T	C	8: 80,399,989 (GRCm39)	V901A	probably benign	Het
Pah	G	A	10: 87,399,286 (GRCm39)	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 110,365,008 (GRCm39)	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,720,457 (GRCm39)	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,869,649 (GRCm39)	Y401H	probably damaging	Het
Prr14	A	G	7: 127,074,997 (GRCm39)	K466R	probably null	Het
Ralgapa2	A	G	2: 146,266,587 (GRCm39)	L663P	probably damaging	Het
Reg3d	A	T	6: 78,353,071 (GRCm39)	C171S	possibly damaging	Het
Reln	G	T	5: 22,147,739 (GRCm39)	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,629,777 (GRCm39)	I98L	probably benign	Het
Rnf216	T	C	5: 142,978,480 (GRCm39)	D886G	possibly damaging	Het
Rp1l1	A	G	14: 64,266,015 (GRCm39)	R534G	probably benign	Het
Selenon	A	C	4: 134,267,061 (GRCm39)	S514A	probably benign	Het
Sema3d	T	A	5: 12,558,152 (GRCm39)	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,670,617 (GRCm39)	I35N	probably damaging	Het
Siglec1	A	C	2: 130,917,744 (GRCm39)	H1044Q	probably benign	Het
Skint5	T	A	4: 113,614,128 (GRCm39)	I693F	unknown	Het
Skint5	G	T	4: 113,743,000 (GRCm39)	L370M	unknown	Het
Slc12a1	G	A	2: 125,059,815 (GRCm39)	W905*	probably null	Het
Slc26a9	G	C	1: 131,691,781 (GRCm39)	V675L	probably benign	Het
Slc5a7	A	T	17: 54,583,990 (GRCm39)	Y433*	probably null	Het
Slc7a4	A	G	16: 17,392,977 (GRCm39)	I274T	probably benign	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Spen	T	C	4: 141,206,605 (GRCm39)	D674G	unknown	Het
Ssh1	T	C	5: 114,080,488 (GRCm39)	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,316,580 (GRCm39)	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144 (GRCm39)	S181R	probably benign	Het
Thada	T	C	17: 84,533,469 (GRCm39)	N1661D	probably benign	Het
Tsga13	C	A	6: 30,876,981 (GRCm39)	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,870,478 (GRCm39)	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,401,971 (GRCm39)	Y220S	probably benign	Het
Unc79	C	T	12: 103,061,235 (GRCm39)	T1145I	probably damaging	Het
Unc80	T	A	1: 66,661,621 (GRCm39)	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891 (GRCm39)	S652P	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,697,310 (GRCm39)	M789K	probably damaging	Het
Wrnip1	T	A	13: 33,000,310 (GRCm39)	L439*	probably null	Het
Zfhx2	A	G	14: 55,304,207 (GRCm39)	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,439,960 (GRCm39)	T215S	probably benign	Het
Zfp64	A	T	2: 168,767,731 (GRCm39)	V627E	probably damaging	Het
Zfp873	T	C	10: 81,895,773 (GRCm39)	I168T	probably benign	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
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'- TGATGCTCGATGCTTTATCTGC -3'
(R):5'- ACGTTCTAGATGCTGGAGGAGG -3'

Sequencing Primer
(F):5'- TCTGCTTGATAAAACTGTGACAG -3'
(R):5'- AAAGAGAAGTTTACAGGGGATTTTC -3'

Posted On

2019-10-07