Incidental Mutation 'R5542:Tdrd7'
ID 436014
Institutional Source Beutler Lab
Gene Symbol Tdrd7
Ensembl Gene ENSMUSG00000035517
Gene Name tudor domain containing 7
Synonyms 5730495N10Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 45965334-46034761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46029757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1030 (V1030A)
Ref Sequence ENSEMBL: ENSMUSP00000103406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102929] [ENSMUST00000107777]
AlphaFold Q8K1H1
Predicted Effect probably benign
Transcript: ENSMUST00000102929
AA Change: V997A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: V997A

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 probably benign
Transcript: ENSMUST00000107777
AA Change: V1030A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: V1030A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155936
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign Het
Other mutations in Tdrd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Tdrd7 APN 4 46,010,889 (GRCm39) missense probably damaging 1.00
IGL01541:Tdrd7 APN 4 46,018,551 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- GTTGCTTCCAAACTTCCATGG -3'
(R):5'- TGATCACCGAGGACAGGATG -3'

Sequencing Primer
(F):5'- CATATAGTGCTTGTTTCCCTTTGG -3'
(R):5'- GCTGCTAGCATTAAAAAGCTGAAGC -3'
Posted On 2016-10-24