Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Tdrd12'

501279

Institutional Source

Beutler Lab

Gene Symbol

Tdrd12

Ensembl Gene

ENSMUSG00000030491

Gene Name

tudor domain containing 12

Synonyms

EG434165, 2410070K17Rik, ecat8, 2410004F06Rik, G1-476-14, repro23

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35469098-35537745 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35511300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 166 (A166E)

Ref Sequence

ENSEMBL: ENSMUSP00000032701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032701] [ENSMUST00000127472] [ENSMUST00000187190] [ENSMUST00000193633] [ENSMUST00000205407]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032701
AA Change: A166E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032701
Gene: ENSMUSG00000030491
AA Change: A166E

Domain	Start	End	E-Value	Type
Pfam:TUDOR	1	129	4e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127472
AA Change: A113E

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118671
Gene: ENSMUSG00000030491
AA Change: A113E

Domain	Start	End	E-Value	Type
Pfam:TUDOR	3	76	6.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187190
AA Change: A166E

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: A166E

Domain	Start	End	E-Value	Type
Pfam:TUDOR	1	129	5.1e-24	PFAM
Pfam:DEAD	276	581	1.8e-6	PFAM
Pfam:TUDOR	852	973	4.9e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193633
AA Change: A166E

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: A166E

Domain	Start	End	E-Value	Type
Pfam:TUDOR	1	129	2.7e-24	PFAM
Pfam:DEAD	273	606	7.6e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205407
AA Change: A113E

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous males are infertile with small testes. Spermatogenesis is arrested predominantly at the pachytene spermatocyte stage. Retrotransposon hopping is derepressed in germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712		probably benign	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	probably benign	Het

Other mutations in Tdrd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Tdrd12	APN	7	35505034	missense	possibly damaging	0.95
IGL01879:Tdrd12	APN	7	35521923	missense	probably damaging	1.00
IGL02026:Tdrd12	APN	7	35504233	splice site	probably benign
IGL02186:Tdrd12	APN	7	35501401	missense	probably damaging	0.99
PIT4131001:Tdrd12	UTSW	7	35481103	nonsense	probably null
R0071:Tdrd12	UTSW	7	35529246	missense	possibly damaging	0.92
R0071:Tdrd12	UTSW	7	35529246	missense	possibly damaging	0.92
R0098:Tdrd12	UTSW	7	35475993	missense	probably damaging	1.00
R0366:Tdrd12	UTSW	7	35508802	missense	probably benign	0.25
R2050:Tdrd12	UTSW	7	35529247	missense	probably damaging	0.98
R2851:Tdrd12	UTSW	7	35485373	missense	probably damaging	1.00
R3715:Tdrd12	UTSW	7	35504980	missense	probably benign	0.05
R3859:Tdrd12	UTSW	7	35493820	missense	possibly damaging	0.50
R3912:Tdrd12	UTSW	7	35487713	missense	probably damaging	1.00
R4656:Tdrd12	UTSW	7	35485254	missense	probably damaging	1.00
R4826:Tdrd12	UTSW	7	35504157	missense	probably benign	0.00
R4969:Tdrd12	UTSW	7	35487295	splice site	probably null
R5202:Tdrd12	UTSW	7	35490030	missense	possibly damaging	0.49
R5321:Tdrd12	UTSW	7	35478094	missense	probably damaging	1.00
R5709:Tdrd12	UTSW	7	35476053	missense	probably damaging	1.00
R5835:Tdrd12	UTSW	7	35529264	missense	probably damaging	1.00
R6029:Tdrd12	UTSW	7	35485230	missense	probably damaging	0.98
R6101:Tdrd12	UTSW	7	35481133	nonsense	probably null
R6341:Tdrd12	UTSW	7	35490048	missense	probably damaging	1.00
R6631:Tdrd12	UTSW	7	35485229	missense	probably damaging	0.99
R6939:Tdrd12	UTSW	7	35485599	critical splice donor site	probably null
R7032:Tdrd12	UTSW	7	35481046	nonsense	probably null
R7058:Tdrd12	UTSW	7	35478109	missense	unknown
R7096:Tdrd12	UTSW	7	35487589	missense
R7203:Tdrd12	UTSW	7	35489223	nonsense	probably null
R7229:Tdrd12	UTSW	7	35480280	missense	unknown
R7265:Tdrd12	UTSW	7	35487722	missense
R7284:Tdrd12	UTSW	7	35480136	splice site	probably null
R7347:Tdrd12	UTSW	7	35485692	missense
R7501:Tdrd12	UTSW	7	35478091	missense	unknown
R7789:Tdrd12	UTSW	7	35488692	missense
R8374:Tdrd12	UTSW	7	35478061	missense	unknown
R8379:Tdrd12	UTSW	7	35524057	nonsense	probably null
R8798:Tdrd12	UTSW	7	35529180	missense	probably damaging	1.00
R9053:Tdrd12	UTSW	7	35505043	missense	probably damaging	1.00
R9062:Tdrd12	UTSW	7	35480269	missense	unknown
R9491:Tdrd12	UTSW	7	35489264	missense
R9745:Tdrd12	UTSW	7	35486539	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCACAGTTAAGAGAAAGTGTTACG -3'
(R):5'- GGCAACTGTAAAATACTGCCTG -3'

Sequencing Primer
(F):5'- GAGAGGCAGATTTCTACGAATTCCC -3'
(R):5'- GCCTGTAGCATCCTCCTACG -3'

Posted On

2017-12-01