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

MMRRC Submission

044495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35168523-35237170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35189473 bp (GRCm39)

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: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	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
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
R7058:Tdrd12	UTSW	7	35,177,534 (GRCm39)	missense	unknown
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'- CTTAAGCTGAGCTAACGCACTC -3'
(R):5'- CATGTGTGTCCTACTGGTGAC -3'

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

Posted On

2018-04-27