Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Tdrd12'

514387

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

044495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35469098-35537745 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35490048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 421 (R421H)

Ref Sequence

ENSEMBL: ENSMUSP00000140328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032701] [ENSMUST00000187190] [ENSMUST00000193633] [ENSMUST00000205407] [ENSMUST00000206641]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032701

SMART Domains

Protein: ENSMUSP00000032701
Gene: ENSMUSG00000030491

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000187190
AA Change: R421H

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

SMART Domains

Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: R421H

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

probably damaging
Transcript: ENSMUST00000193633
AA Change: R446H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: R446H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205407

Predicted Effect

probably benign
Transcript: ENSMUST00000206641

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,105,546	D658G	possibly damaging	Het
Amz2	A	G	11: 109,428,827	H13R	probably benign	Het
Ankrd27	G	T	7: 35,627,403		probably null	Het
Atp8a1	T	C	5: 67,682,927	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,658,739	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,648,114	S105P	probably damaging	Het
Cdh26	T	A	2: 178,471,573		probably null	Het
Cxcl10	T	C	5: 92,348,213	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,712,489	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,204,251	D594E	probably benign	Het
Ddx5	T	C	11: 106,785,542		probably null	Het
Ddx58	T	A	4: 40,222,199		probably null	Het
Duox1	T	C	2: 122,337,721	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,946,284		probably null	Het
Ecel1	A	G	1: 87,150,471		probably null	Het
Efcab6	T	G	15: 83,935,938	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,777,998	L464P	possibly damaging	Het
Fam129c	C	T	8: 71,600,077	P65L	probably damaging	Het
Fam234a	T	A	17: 26,213,693	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,088,145	V694A	probably damaging	Het
Gli2	T	C	1: 118,836,224	D1399G	probably damaging	Het
Gm10110	T	C	14: 89,896,708		noncoding transcript	Het
Hdac3	A	G	18: 37,944,164	L219P	probably damaging	Het
Hlcs	A	G	16: 94,231,163	F52S	probably damaging	Het
Ints7	C	A	1: 191,613,127	T643K	probably damaging	Het
Ireb2	A	G	9: 54,908,780	I878M	probably damaging	Het
Itga3	A	T	11: 95,055,851		probably null	Het
Lrfn5	T	A	12: 61,843,582	Y552*	probably null	Het
Mafb	T	C	2: 160,366,451	T76A	probably damaging	Het
Man2b1	A	T	8: 85,095,399	S748C	probably damaging	Het
Mmp15	G	T	8: 95,365,463		probably null	Het
Mmp17	A	T	5: 129,601,955	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,801,492	D1005V	probably damaging	Het
Myh3	T	C	11: 67,082,996	F165S	probably benign	Het
Nacc1	T	C	8: 84,674,791	D419G	probably benign	Het
Neb	G	A	2: 52,209,474	S4545L	probably damaging	Het
Npas2	T	C	1: 39,300,687	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr1448	T	C	19: 12,919,479	T277A	probably benign	Het
Pde4dip	T	A	3: 97,694,911	Q2283L	probably benign	Het
Phax	C	T	18: 56,573,101	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,102,829	K79*	probably null	Het
Pkd1	T	A	17: 24,580,227	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,541,148	R427C	probably damaging	Het
Ptprj	A	T	2: 90,458,349	F757L	probably benign	Het
Rad1	A	G	15: 10,492,821	D208G	probably damaging	Het
Rangrf	T	A	11: 68,972,712	N156I	probably benign	Het
Rasl11b	T	C	5: 74,198,376	S181P	probably damaging	Het
Rlf	G	A	4: 121,149,360	Q808*	probably null	Het
Rogdi	G	T	16: 5,013,377		probably null	Het
Sec24a	A	T	11: 51,717,776	V573D	probably damaging	Het
Sorbs2	A	G	8: 45,770,578	T200A	probably damaging	Het
Srgap2	C	T	1: 131,291,629	R259H	probably benign	Het
Ssc5d	T	A	7: 4,936,665	V700E	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,597,259	D6E	possibly damaging	Het
Top3b	T	C	16: 16,879,071	M62T	probably damaging	Het
Trhr	T	G	15: 44,229,298	Y310*	probably null	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp34	A	G	11: 23,381,353	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,929,066	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,472,010	M290K	probably benign	Het
Wdr75	T	C	1: 45,802,131		probably null	Het
Wnk1	A	T	6: 119,948,585	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,670,778	T191A	probably benign	Het
Zc3h15	A	G	2: 83,661,223	E265G	probably benign	Het
Zcchc9	A	G	13: 91,800,697	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,854,137	H247R	probably damaging	Het
Zfp433	A	G	10: 81,720,123	E152G	probably damaging	Het
Zfp770	A	T	2: 114,196,759	S276R	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
R5642:Tdrd12	UTSW	7	35511300	missense	probably damaging	0.99
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
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'- CTTAAGCTGAGCTAACGCACTC -3'
(R):5'- CATGTGTGTCCTACTGGTGAC -3'

Sequencing Primer
(F):5'- CTTCATTCCACAGGGTAAGAGTCTG -3'
(R):5'- CAGTGAGGTGCATGGAGCTC -3'

Posted On

2018-04-27