Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Odf2l'

601516

Institutional Source

Beutler Lab

Gene Symbol

Odf2l

Ensembl Gene

ENSMUSG00000028256

Gene Name

outer dense fiber of sperm tails 2-like

Synonyms

4733401D09Rik, 9630045K08Rik

MMRRC Submission

045870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R7816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144824349-144859676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144856776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 577 (I577T)

Ref Sequence

ENSEMBL: ENSMUSP00000096140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029920] [ENSMUST00000098538] [ENSMUST00000098539] [ENSMUST00000106192] [ENSMUST00000200353]

AlphaFold

Q9D478

Predicted Effect

probably damaging
Transcript: ENSMUST00000029920
AA Change: I481T

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

SMART Domains

Protein: ENSMUSP00000029920
Gene: ENSMUSG00000028256
AA Change: I481T

Domain	Start	End	E-Value	Type
coiled coil region	31	58	N/A	INTRINSIC
coiled coil region	85	183	N/A	INTRINSIC
coiled coil region	206	367	N/A	INTRINSIC
coiled coil region	388	508	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098538
AA Change: I577T

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

SMART Domains

Protein: ENSMUSP00000096140
Gene: ENSMUSG00000028256
AA Change: I577T

Domain	Start	End	E-Value	Type
coiled coil region	31	58	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
coiled coil region	128	226	N/A	INTRINSIC
coiled coil region	249	604	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098539
AA Change: I524T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096141
Gene: ENSMUSG00000028256
AA Change: I524T

Domain	Start	End	E-Value	Type
coiled coil region	31	58	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
coiled coil region	128	226	N/A	INTRINSIC
coiled coil region	249	410	N/A	INTRINSIC
coiled coil region	431	551	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106192
AA Change: I524T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101798
Gene: ENSMUSG00000028256
AA Change: I524T

Domain	Start	End	E-Value	Type
coiled coil region	31	58	N/A	INTRINSIC
low complexity region	77	88	N/A	INTRINSIC
coiled coil region	128	226	N/A	INTRINSIC
coiled coil region	249	410	N/A	INTRINSIC
coiled coil region	431	551	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195926

Predicted Effect

probably benign
Transcript: ENSMUST00000200353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,331,588 (GRCm39)	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,736,132 (GRCm39)	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,220,725 (GRCm39)	M1403L	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Amotl2	T	A	9: 102,608,853 (GRCm39)	I789K	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,220,343 (GRCm39)	T80I	probably benign	Het
Bcas1	G	T	2: 170,248,347 (GRCm39)	F181L	probably benign	Het
Cacnb1	T	C	11: 97,896,115 (GRCm39)	E389G	probably damaging	Het
Cd52	A	T	4: 133,821,199 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Coro2a	T	C	4: 46,546,809 (GRCm39)	D182G	probably benign	Het
Crp	T	C	1: 172,526,277 (GRCm39)	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,299,852 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,448,413 (GRCm39)	D82G	probably damaging	Het
Cyp2b9	A	G	7: 25,900,517 (GRCm39)	N385S	probably benign	Het
Dppa1	A	G	11: 46,507,003 (GRCm39)	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,617,599 (GRCm39)	R91G	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Fbxl13	T	C	5: 21,748,785 (GRCm39)	Y378C	probably benign	Het
Glis2	G	A	16: 4,431,328 (GRCm39)	R285H	probably damaging	Het
Gm17174	T	A	14: 51,829,569 (GRCm39)		probably benign	Het
Golga1	G	A	2: 38,942,110 (GRCm39)	S102F	probably damaging	Het
Hdac1	A	T	4: 129,411,888 (GRCm39)	Y336N	probably damaging	Het
Hfe	G	T	13: 23,888,382 (GRCm39)	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-56	T	C	12: 115,206,846 (GRCm39)	S4G	probably benign	Het
Ino80d	A	G	1: 63,125,556 (GRCm39)	Y74H	probably damaging	Het
Ints1	A	T	5: 139,757,134 (GRCm39)	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,241,454 (GRCm39)	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,341,162 (GRCm39)	G31V	probably benign	Het
Kcnh5	C	T	12: 75,023,457 (GRCm39)	C537Y	probably damaging	Het
Kcnj11	A	T	7: 45,749,281 (GRCm39)	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,491,642 (GRCm39)	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,542,466 (GRCm39)	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,527,680 (GRCm39)	V15I	probably benign	Het
Map4k4	A	G	1: 40,053,368 (GRCm39)	T856A	possibly damaging	Het
Mks1	T	A	11: 87,751,542 (GRCm39)	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,243,263 (GRCm39)	Y32H	probably damaging	Het
Muc13	A	G	16: 33,619,386 (GRCm39)	S45G	unknown	Het
Mx2	G	A	16: 97,346,812 (GRCm39)	G93D	probably damaging	Het
Noc4l	A	T	5: 110,797,539 (GRCm39)	V365E	probably benign	Het
Or4l1	T	C	14: 50,166,622 (GRCm39)	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnoc	A	T	14: 65,639,307 (GRCm39)	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,528,251 (GRCm39)	I65V	probably benign	Het
Pramel23	G	T	4: 143,424,764 (GRCm39)	N226K	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Ptpn21	G	A	12: 98,648,791 (GRCm39)	A955V	probably damaging	Het
Rabgap1	G	T	2: 37,453,476 (GRCm39)	R968L	probably benign	Het
Rarres1	T	C	3: 67,386,677 (GRCm39)	N282S	probably damaging	Het
Rgs17	T	C	10: 5,791,501 (GRCm39)	N72S	probably benign	Het
Rp1	T	A	1: 4,417,926 (GRCm39)	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,080,378 (GRCm39)	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,830,855 (GRCm39)	N437K	probably damaging	Het
Rtn4r	C	A	16: 17,969,399 (GRCm39)	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,990,335 (GRCm39)	S16P	probably damaging	Het
S1pr1	A	G	3: 115,505,947 (GRCm39)	S216P	possibly damaging	Het
Scn8a	C	A	15: 100,908,917 (GRCm39)	T795K	possibly damaging	Het
Spryd3	A	C	15: 102,026,141 (GRCm39)	F401C	probably damaging	Het
Stk36	G	T	1: 74,650,328 (GRCm39)	E287*	probably null	Het
Tbc1d1	G	T	5: 64,507,095 (GRCm39)	S1104I	probably damaging	Het
Tex15	A	G	8: 34,071,683 (GRCm39)	D2410G	probably benign	Het
Tmem92	T	A	11: 94,669,784 (GRCm39)	I116F	possibly damaging	Het
Trp53bp2	A	G	1: 182,276,260 (GRCm39)	E747G	probably damaging	Het
Trp63	A	T	16: 25,707,990 (GRCm39)	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,077,705 (GRCm39)	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Uggt1	G	A	1: 36,202,396 (GRCm39)	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,476 (GRCm39)	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,792,083 (GRCm39)	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,377,013 (GRCm39)	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,243,681 (GRCm39)	V34A	probably damaging	Het
Zfp180	A	T	7: 23,804,570 (GRCm39)	S330C	probably damaging	Het
Zfp292	G	A	4: 34,809,865 (GRCm39)	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het

Other mutations in Odf2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00685:Odf2l	APN	3	144,833,634 (GRCm39)	missense	possibly damaging	0.93
IGL00821:Odf2l	APN	3	144,856,748 (GRCm39)	missense	probably damaging	1.00
IGL01984:Odf2l	APN	3	144,845,590 (GRCm39)	nonsense	probably null
R0080:Odf2l	UTSW	3	144,830,084 (GRCm39)	missense	possibly damaging	0.63
R0133:Odf2l	UTSW	3	144,854,302 (GRCm39)	missense	probably damaging	0.96
R0436:Odf2l	UTSW	3	144,831,877 (GRCm39)	missense	possibly damaging	0.91
R1218:Odf2l	UTSW	3	144,854,693 (GRCm39)	missense	probably damaging	1.00
R1521:Odf2l	UTSW	3	144,854,797 (GRCm39)	missense	possibly damaging	0.93
R1677:Odf2l	UTSW	3	144,845,543 (GRCm39)	critical splice acceptor site	probably null
R1884:Odf2l	UTSW	3	144,856,809 (GRCm39)	missense	probably damaging	1.00
R2151:Odf2l	UTSW	3	144,854,785 (GRCm39)	missense	possibly damaging	0.86
R2910:Odf2l	UTSW	3	144,830,084 (GRCm39)	missense	probably benign	0.00
R2911:Odf2l	UTSW	3	144,830,084 (GRCm39)	missense	probably benign	0.00
R4552:Odf2l	UTSW	3	144,856,844 (GRCm39)	missense	probably benign	0.02
R4640:Odf2l	UTSW	3	144,834,706 (GRCm39)	missense	probably damaging	1.00
R4667:Odf2l	UTSW	3	144,833,801 (GRCm39)	missense	probably benign	0.04
R5472:Odf2l	UTSW	3	144,852,627 (GRCm39)	missense	probably benign	0.00
R5769:Odf2l	UTSW	3	144,841,492 (GRCm39)	missense	possibly damaging	0.91
R5877:Odf2l	UTSW	3	144,834,771 (GRCm39)	splice site	probably null
R6026:Odf2l	UTSW	3	144,854,797 (GRCm39)	missense	possibly damaging	0.93
R6031:Odf2l	UTSW	3	144,845,624 (GRCm39)	missense	probably damaging	1.00
R6031:Odf2l	UTSW	3	144,845,624 (GRCm39)	missense	probably damaging	1.00
R6351:Odf2l	UTSW	3	144,841,479 (GRCm39)	missense	probably benign	0.11
R6454:Odf2l	UTSW	3	144,859,181 (GRCm39)	missense	possibly damaging	0.93
R6462:Odf2l	UTSW	3	144,852,672 (GRCm39)	missense	probably damaging	1.00
R6888:Odf2l	UTSW	3	144,854,379 (GRCm39)	critical splice donor site	probably null
R7008:Odf2l	UTSW	3	144,838,495 (GRCm39)	missense	probably damaging	1.00
R7121:Odf2l	UTSW	3	144,845,581 (GRCm39)	missense	possibly damaging	0.93
R7151:Odf2l	UTSW	3	144,832,827 (GRCm39)	missense	probably benign	0.26
R7542:Odf2l	UTSW	3	144,859,197 (GRCm39)	missense	probably damaging	0.99
R7664:Odf2l	UTSW	3	144,854,345 (GRCm39)	missense	probably benign	0.41
R7811:Odf2l	UTSW	3	144,859,148 (GRCm39)	missense	probably benign	0.00
R7913:Odf2l	UTSW	3	144,859,244 (GRCm39)	nonsense	probably null
R8090:Odf2l	UTSW	3	144,832,796 (GRCm39)	missense	probably damaging	0.96
R8205:Odf2l	UTSW	3	144,856,495 (GRCm39)	critical splice acceptor site	probably benign
R8222:Odf2l	UTSW	3	144,833,799 (GRCm39)	missense	probably damaging	1.00
R8829:Odf2l	UTSW	3	144,833,820 (GRCm39)	missense	probably benign	0.02
R8832:Odf2l	UTSW	3	144,833,820 (GRCm39)	missense	probably benign	0.02
R8862:Odf2l	UTSW	3	144,833,758 (GRCm39)	unclassified	probably benign
R9136:Odf2l	UTSW	3	144,851,698 (GRCm39)	missense
R9778:Odf2l	UTSW	3	144,854,789 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- TAGTTTCTAATGGGGTTGTCATACC -3'
(R):5'- GTGACTGAAGCTGCACAGAG -3'

Sequencing Primer
(F):5'- TCATACCCAACTAATATCTACTTGGG -3'
(R):5'- CAGGGTGATGAAAACTCTGTTTTGC -3'

Posted On

2019-12-03