Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:Tdrd12'

548060

Institutional Source

Beutler Lab

Gene Symbol

Tdrd12

Ensembl Gene

ENSMUSG00000030491

Gene Name

tudor domain containing 12

Synonyms

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

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35168523-35237170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35177534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 940 (M940T)

Ref Sequence

ENSEMBL: ENSMUSP00000141796 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000140328
Gene: ENSMUSG00000030491
AA Change: M1001T

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

unknown
Transcript: ENSMUST00000193633
AA Change: M940T

SMART Domains

Protein: ENSMUSP00000141796
Gene: ENSMUSG00000030491
AA Change: M940T

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (87/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
BC028528	A	T	3: 95,792,323 (GRCm39)	L137I	possibly damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Galnt13	A	G	2: 54,988,587 (GRCm39)	T470A	probably damaging	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Nol8	C	T	13: 49,829,862 (GRCm39)	R1104C	probably damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Setd5	T	C	6: 113,092,532 (GRCm39)	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,950,456 (GRCm39)	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Tdrd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Tdrd12	APN	7	35,204,459 (GRCm39)	missense	possibly damaging	0.95
IGL01879:Tdrd12	APN	7	35,221,348 (GRCm39)	missense	probably damaging	1.00
IGL02026:Tdrd12	APN	7	35,203,658 (GRCm39)	splice site	probably benign
IGL02186:Tdrd12	APN	7	35,200,826 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Tdrd12	UTSW	7	35,180,528 (GRCm39)	nonsense	probably null
R0071:Tdrd12	UTSW	7	35,228,671 (GRCm39)	missense	possibly damaging	0.92
R0071:Tdrd12	UTSW	7	35,228,671 (GRCm39)	missense	possibly damaging	0.92
R0098:Tdrd12	UTSW	7	35,175,418 (GRCm39)	missense	probably damaging	1.00
R0366:Tdrd12	UTSW	7	35,208,227 (GRCm39)	missense	probably benign	0.25
R2050:Tdrd12	UTSW	7	35,228,672 (GRCm39)	missense	probably damaging	0.98
R2851:Tdrd12	UTSW	7	35,184,798 (GRCm39)	missense	probably damaging	1.00
R3715:Tdrd12	UTSW	7	35,204,405 (GRCm39)	missense	probably benign	0.05
R3859:Tdrd12	UTSW	7	35,193,245 (GRCm39)	missense	possibly damaging	0.50
R3912:Tdrd12	UTSW	7	35,187,138 (GRCm39)	missense	probably damaging	1.00
R4656:Tdrd12	UTSW	7	35,184,679 (GRCm39)	missense	probably damaging	1.00
R4826:Tdrd12	UTSW	7	35,203,582 (GRCm39)	missense	probably benign	0.00
R4969:Tdrd12	UTSW	7	35,186,720 (GRCm39)	splice site	probably null
R5202:Tdrd12	UTSW	7	35,189,455 (GRCm39)	missense	possibly damaging	0.49
R5321:Tdrd12	UTSW	7	35,177,519 (GRCm39)	missense	probably damaging	1.00
R5642:Tdrd12	UTSW	7	35,210,725 (GRCm39)	missense	probably damaging	0.99
R5709:Tdrd12	UTSW	7	35,175,478 (GRCm39)	missense	probably damaging	1.00
R5835:Tdrd12	UTSW	7	35,228,689 (GRCm39)	missense	probably damaging	1.00
R6029:Tdrd12	UTSW	7	35,184,655 (GRCm39)	missense	probably damaging	0.98
R6101:Tdrd12	UTSW	7	35,180,558 (GRCm39)	nonsense	probably null
R6341:Tdrd12	UTSW	7	35,189,473 (GRCm39)	missense	probably damaging	1.00
R6631:Tdrd12	UTSW	7	35,184,654 (GRCm39)	missense	probably damaging	0.99
R6939:Tdrd12	UTSW	7	35,185,024 (GRCm39)	critical splice donor site	probably null
R7032:Tdrd12	UTSW	7	35,180,471 (GRCm39)	nonsense	probably null
R7096:Tdrd12	UTSW	7	35,187,014 (GRCm39)	missense
R7203:Tdrd12	UTSW	7	35,188,648 (GRCm39)	nonsense	probably null
R7229:Tdrd12	UTSW	7	35,179,705 (GRCm39)	missense	unknown
R7265:Tdrd12	UTSW	7	35,187,147 (GRCm39)	missense
R7284:Tdrd12	UTSW	7	35,179,561 (GRCm39)	splice site	probably null
R7347:Tdrd12	UTSW	7	35,185,117 (GRCm39)	missense
R7501:Tdrd12	UTSW	7	35,177,516 (GRCm39)	missense	unknown
R7789:Tdrd12	UTSW	7	35,188,117 (GRCm39)	missense
R8374:Tdrd12	UTSW	7	35,177,486 (GRCm39)	missense	unknown
R8379:Tdrd12	UTSW	7	35,223,482 (GRCm39)	nonsense	probably null
R8798:Tdrd12	UTSW	7	35,228,605 (GRCm39)	missense	probably damaging	1.00
R9053:Tdrd12	UTSW	7	35,204,468 (GRCm39)	missense	probably damaging	1.00
R9062:Tdrd12	UTSW	7	35,179,694 (GRCm39)	missense	unknown
R9491:Tdrd12	UTSW	7	35,188,689 (GRCm39)	missense
R9745:Tdrd12	UTSW	7	35,185,964 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCACATGCACTGTCACCATG -3'
(R):5'- TGAACCTTTGCACACCTGC -3'

Sequencing Primer
(F):5'- CCAAATCCATGACCCAAATAACATG -3'
(R):5'- CTTTTGATGAGAAAGGAGACTGACTC -3'

Posted On

2019-05-13