Incidental Mutation 'IGL01541:Tdrd7'
ID 90159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdrd7
Ensembl Gene ENSMUSG00000035517
Gene Name tudor domain containing 7
Synonyms 5730495N10Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # IGL01541
Quality Score
Status
Chromosome 4
Chromosomal Location 45965334-46034761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46018551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 722 (I722F)
Ref Sequence ENSEMBL: ENSMUSP00000103406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102929] [ENSMUST00000107777]
AlphaFold Q8K1H1
Predicted Effect possibly damaging
Transcript: ENSMUST00000102929
AA Change: I689F

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: I689F

DomainStartEndE-ValueType
Pfam:OST-HTH 3 73 2.6e-10 PFAM
internal_repeat_1 223 300 2.94e-9 PROSPERO
low complexity region 302 318 N/A INTRINSIC
internal_repeat_1 326 400 2.94e-9 PROSPERO
TUDOR 500 556 2.08e-5 SMART
TUDOR 690 746 1.66e-4 SMART
TUDOR 945 1001 4.03e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107777
AA Change: I722F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: I722F

DomainStartEndE-ValueType
Pfam:OST-HTH 36 106 5.7e-11 PFAM
internal_repeat_1 256 333 3.1e-9 PROSPERO
low complexity region 335 351 N/A INTRINSIC
internal_repeat_1 359 433 3.1e-9 PROSPERO
TUDOR 533 589 2.08e-5 SMART
TUDOR 723 779 1.66e-4 SMART
TUDOR 978 1034 4.03e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes arrest of spermatogenesis, male sterility, glaucoma, and cataracts. Aging mice homozygous for an ENU-induced (null) allele show additional ocular phenotypes including an enlarged anterior chamber, lens extrusion, a flat iris, uveitis, and optic neuropathy. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Adamts10 A G 17: 33,762,205 (GRCm39) S505G probably benign Het
Ahnak C T 19: 8,985,243 (GRCm39) H2176Y possibly damaging Het
Ash1l G T 3: 88,973,572 (GRCm39) D2544Y probably damaging Het
Ccdc88a T A 11: 29,350,283 (GRCm39) F88L probably benign Het
Cdc42bpa A T 1: 179,978,723 (GRCm39) probably null Het
Celsr3 T C 9: 108,708,907 (GRCm39) V1251A probably damaging Het
CN725425 T A 15: 91,129,955 (GRCm39) F273I possibly damaging Het
Eif2b1 A G 5: 124,714,965 (GRCm39) C104R probably damaging Het
Ercc3 A T 18: 32,381,372 (GRCm39) D396V possibly damaging Het
Fga A T 3: 82,940,014 (GRCm39) D556V probably damaging Het
Frg1 C T 8: 41,863,362 (GRCm39) probably benign Het
Fto T C 8: 92,136,376 (GRCm39) Y217H probably damaging Het
Garin4 A T 1: 190,896,606 (GRCm39) Y12* probably null Het
Grin3a A T 4: 49,792,533 (GRCm39) V400E probably damaging Het
Gtse1 T A 15: 85,759,855 (GRCm39) L682* probably null Het
Igkv6-32 A G 6: 70,051,290 (GRCm39) I22T probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Lamp1 T C 8: 13,215,905 (GRCm39) C35R probably damaging Het
Lzts3 A T 2: 130,478,126 (GRCm39) L324Q probably damaging Het
Muc6 T A 7: 141,236,069 (GRCm39) R453* probably null Het
Naa35 T A 13: 59,748,777 (GRCm39) H132Q probably damaging Het
Pgm5 C A 19: 24,793,777 (GRCm39) G296W probably damaging Het
Pkd1 T A 17: 24,805,272 (GRCm39) C3275S probably damaging Het
Podxl2 A G 6: 88,826,331 (GRCm39) L325P probably benign Het
Prom2 A G 2: 127,371,050 (GRCm39) probably null Het
Rab12 T C 17: 66,804,404 (GRCm39) S185G probably damaging Het
Rnf43 T G 11: 87,621,046 (GRCm39) M313R probably null Het
Rusc2 T C 4: 43,415,840 (GRCm39) V382A probably benign Het
Sbno1 A T 5: 124,516,618 (GRCm39) probably benign Het
Smg6 T C 11: 74,816,770 (GRCm39) I10T probably benign Het
Smpd1 T C 7: 105,205,033 (GRCm39) F304S possibly damaging Het
Spta1 G A 1: 174,044,725 (GRCm39) V1454I probably benign Het
Topors T C 4: 40,262,364 (GRCm39) T307A possibly damaging Het
Ttn C T 2: 76,807,502 (GRCm39) R77Q probably damaging Het
Vmn1r210 C T 13: 23,011,778 (GRCm39) M169I probably benign Het
Zc3h4 A G 7: 16,168,257 (GRCm39) S789G unknown Het
Zfp629 G T 7: 127,211,917 (GRCm39) probably benign Het
Zfp977 C A 7: 42,230,156 (GRCm39) R123I probably benign Het
Other mutations in Tdrd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Tdrd7 APN 4 46,010,889 (GRCm39) missense probably damaging 1.00
IGL01901:Tdrd7 APN 4 45,989,225 (GRCm39) splice site probably benign
IGL02812:Tdrd7 APN 4 45,994,406 (GRCm39) missense probably benign 0.08
A5278:Tdrd7 UTSW 4 46,007,622 (GRCm39) missense probably benign 0.01
R0049:Tdrd7 UTSW 4 45,987,582 (GRCm39) missense probably damaging 1.00
R0049:Tdrd7 UTSW 4 45,987,582 (GRCm39) missense probably damaging 1.00
R0389:Tdrd7 UTSW 4 46,016,987 (GRCm39) missense probably benign 0.01
R0452:Tdrd7 UTSW 4 45,965,488 (GRCm39) splice site probably benign
R0639:Tdrd7 UTSW 4 45,989,102 (GRCm39) missense probably benign 0.00
R0681:Tdrd7 UTSW 4 46,016,879 (GRCm39) missense probably benign 0.45
R0925:Tdrd7 UTSW 4 46,025,758 (GRCm39) missense probably damaging 1.00
R0944:Tdrd7 UTSW 4 46,029,762 (GRCm39) missense probably benign 0.01
R1586:Tdrd7 UTSW 4 45,994,445 (GRCm39) missense probably benign 0.39
R1770:Tdrd7 UTSW 4 45,987,681 (GRCm39) splice site probably benign
R1945:Tdrd7 UTSW 4 45,965,474 (GRCm39) missense probably benign 0.00
R4400:Tdrd7 UTSW 4 46,005,540 (GRCm39) missense possibly damaging 0.87
R4457:Tdrd7 UTSW 4 46,007,526 (GRCm39) missense probably benign 0.04
R4898:Tdrd7 UTSW 4 46,005,616 (GRCm39) missense possibly damaging 0.94
R5152:Tdrd7 UTSW 4 46,013,191 (GRCm39) missense probably damaging 1.00
R5197:Tdrd7 UTSW 4 46,034,350 (GRCm39) missense probably damaging 1.00
R5326:Tdrd7 UTSW 4 46,029,757 (GRCm39) missense probably benign 0.01
R5473:Tdrd7 UTSW 4 46,020,877 (GRCm39) missense possibly damaging 0.95
R5524:Tdrd7 UTSW 4 46,034,301 (GRCm39) missense probably benign 0.31
R5542:Tdrd7 UTSW 4 46,029,757 (GRCm39) missense probably benign 0.01
R5554:Tdrd7 UTSW 4 46,005,358 (GRCm39) missense possibly damaging 0.92
R5588:Tdrd7 UTSW 4 45,992,225 (GRCm39) missense probably benign 0.18
R5776:Tdrd7 UTSW 4 46,005,689 (GRCm39) missense probably benign 0.00
R5786:Tdrd7 UTSW 4 45,989,082 (GRCm39) missense probably benign 0.09
R6063:Tdrd7 UTSW 4 46,005,486 (GRCm39) missense probably benign 0.00
R6340:Tdrd7 UTSW 4 45,994,517 (GRCm39) missense probably damaging 0.99
R7130:Tdrd7 UTSW 4 46,029,693 (GRCm39) missense probably damaging 1.00
R7369:Tdrd7 UTSW 4 46,013,239 (GRCm39) missense possibly damaging 0.79
R7470:Tdrd7 UTSW 4 45,990,144 (GRCm39) missense probably benign 0.32
R7876:Tdrd7 UTSW 4 46,025,684 (GRCm39) missense probably benign
R7999:Tdrd7 UTSW 4 46,010,902 (GRCm39) critical splice donor site probably null
R8042:Tdrd7 UTSW 4 45,987,516 (GRCm39) missense possibly damaging 0.71
R8058:Tdrd7 UTSW 4 46,034,309 (GRCm39) missense probably benign 0.34
R8532:Tdrd7 UTSW 4 46,016,920 (GRCm39) missense probably damaging 0.98
R8771:Tdrd7 UTSW 4 46,010,800 (GRCm39) missense probably damaging 1.00
R8836:Tdrd7 UTSW 4 45,987,570 (GRCm39) missense probably damaging 1.00
R9033:Tdrd7 UTSW 4 46,007,468 (GRCm39) missense probably damaging 1.00
R9313:Tdrd7 UTSW 4 46,005,319 (GRCm39) missense probably benign 0.00
R9390:Tdrd7 UTSW 4 46,005,416 (GRCm39) missense probably damaging 1.00
R9683:Tdrd7 UTSW 4 46,025,946 (GRCm39) missense probably damaging 0.99
R9696:Tdrd7 UTSW 4 46,016,888 (GRCm39) missense possibly damaging 0.60
R9745:Tdrd7 UTSW 4 45,994,310 (GRCm39) missense possibly damaging 0.93
X0063:Tdrd7 UTSW 4 45,992,268 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03