Incidental Mutation 'R4713:Tex14'
ID 353391
Institutional Source Beutler Lab
Gene Symbol Tex14
Ensembl Gene ENSMUSG00000010342
Gene Name testis expressed gene 14
Synonyms
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4713 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87295891-87446649 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87427691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000117564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060835] [ENSMUST00000100657] [ENSMUST00000131973]
AlphaFold Q7M6U3
Predicted Effect probably benign
Transcript: ENSMUST00000060835
AA Change: S1228P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: S1228P

DomainStartEndE-ValueType
ANK 22 51 7.99e2 SMART
ANK 55 84 6.36e-3 SMART
ANK 88 117 3.49e0 SMART
Pfam:Pkinase 251 504 3.5e-19 PFAM
Pfam:Pkinase_Tyr 254 503 8.1e-28 PFAM
coiled coil region 659 684 N/A INTRINSIC
coiled coil region 740 776 N/A INTRINSIC
low complexity region 1219 1236 N/A INTRINSIC
coiled coil region 1289 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100657
Predicted Effect probably damaging
Transcript: ENSMUST00000131973
AA Change: S48P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117564
Gene: ENSMUSG00000010342
AA Change: S48P

DomainStartEndE-ValueType
low complexity region 39 56 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
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 is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted allele are infertile due to spermatogenic failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Cep152 C A 2: 125,429,868 (GRCm39) A685S possibly damaging Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I probably damaging Het
Other mutations in Tex14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Tex14 APN 11 87,426,469 (GRCm39) missense probably damaging 0.98
IGL00494:Tex14 APN 11 87,446,310 (GRCm39) missense probably damaging 1.00
IGL01604:Tex14 APN 11 87,400,524 (GRCm39) missense possibly damaging 0.63
IGL02690:Tex14 APN 11 87,377,100 (GRCm39) missense probably benign 0.11
IGL02888:Tex14 APN 11 87,418,738 (GRCm39) critical splice donor site probably null
IGL03073:Tex14 APN 11 87,426,435 (GRCm39) missense probably damaging 0.99
IGL03109:Tex14 APN 11 87,434,191 (GRCm39) missense probably damaging 1.00
IGL03047:Tex14 UTSW 11 87,427,530 (GRCm39) missense probably damaging 1.00
R0141:Tex14 UTSW 11 87,383,857 (GRCm39) splice site probably null
R0455:Tex14 UTSW 11 87,405,131 (GRCm39) missense possibly damaging 0.93
R0624:Tex14 UTSW 11 87,411,525 (GRCm39) missense probably benign 0.19
R0718:Tex14 UTSW 11 87,390,439 (GRCm39) missense probably benign 0.20
R1077:Tex14 UTSW 11 87,410,571 (GRCm39) splice site probably benign
R1118:Tex14 UTSW 11 87,413,343 (GRCm39) missense probably benign 0.07
R1120:Tex14 UTSW 11 87,429,502 (GRCm39) splice site probably benign
R1168:Tex14 UTSW 11 87,427,568 (GRCm39) missense probably benign 0.11
R1190:Tex14 UTSW 11 87,385,934 (GRCm39) splice site probably null
R1470:Tex14 UTSW 11 87,440,355 (GRCm39) splice site probably benign
R1563:Tex14 UTSW 11 87,427,634 (GRCm39) missense probably damaging 0.99
R1607:Tex14 UTSW 11 87,445,754 (GRCm39) missense probably damaging 1.00
R1696:Tex14 UTSW 11 87,402,371 (GRCm39) missense possibly damaging 0.49
R1873:Tex14 UTSW 11 87,390,431 (GRCm39) missense probably damaging 1.00
R1894:Tex14 UTSW 11 87,365,274 (GRCm39) missense probably damaging 1.00
R1911:Tex14 UTSW 11 87,385,861 (GRCm39) missense probably damaging 1.00
R1955:Tex14 UTSW 11 87,400,447 (GRCm39) missense probably damaging 1.00
R1971:Tex14 UTSW 11 87,402,431 (GRCm39) missense probably damaging 1.00
R1990:Tex14 UTSW 11 87,440,296 (GRCm39) missense probably damaging 1.00
R1991:Tex14 UTSW 11 87,440,296 (GRCm39) missense probably damaging 1.00
R1993:Tex14 UTSW 11 87,427,581 (GRCm39) missense possibly damaging 0.57
R2106:Tex14 UTSW 11 87,377,076 (GRCm39) missense possibly damaging 0.47
R2118:Tex14 UTSW 11 87,410,569 (GRCm39) splice site probably benign
R2860:Tex14 UTSW 11 87,365,243 (GRCm39) missense probably damaging 1.00
R2861:Tex14 UTSW 11 87,365,243 (GRCm39) missense probably damaging 1.00
R4016:Tex14 UTSW 11 87,429,449 (GRCm39) splice site probably null
R4089:Tex14 UTSW 11 87,403,029 (GRCm39) missense probably damaging 1.00
R4158:Tex14 UTSW 11 87,407,595 (GRCm39) missense probably benign 0.06
R4533:Tex14 UTSW 11 87,427,655 (GRCm39) nonsense probably null
R4758:Tex14 UTSW 11 87,405,311 (GRCm39) missense probably benign 0.00
R4880:Tex14 UTSW 11 87,377,121 (GRCm39) missense possibly damaging 0.95
R4953:Tex14 UTSW 11 87,427,727 (GRCm39) critical splice donor site probably null
R5092:Tex14 UTSW 11 87,405,668 (GRCm39) missense probably benign 0.03
R5119:Tex14 UTSW 11 87,324,639 (GRCm39) missense probably damaging 1.00
R5322:Tex14 UTSW 11 87,402,298 (GRCm39) missense probably benign 0.04
R5470:Tex14 UTSW 11 87,442,430 (GRCm39) missense probably damaging 0.99
R5607:Tex14 UTSW 11 87,413,404 (GRCm39) missense probably benign 0.00
R5642:Tex14 UTSW 11 87,405,046 (GRCm39) missense probably benign
R5643:Tex14 UTSW 11 87,426,452 (GRCm39) missense probably damaging 1.00
R5786:Tex14 UTSW 11 87,405,121 (GRCm39) missense probably damaging 0.97
R6478:Tex14 UTSW 11 87,405,199 (GRCm39) missense probably benign
R6560:Tex14 UTSW 11 87,388,688 (GRCm39) missense possibly damaging 0.95
R6661:Tex14 UTSW 11 87,385,842 (GRCm39) missense probably damaging 1.00
R7037:Tex14 UTSW 11 87,388,741 (GRCm39) missense probably damaging 1.00
R7156:Tex14 UTSW 11 87,375,545 (GRCm39) missense probably damaging 0.99
R7465:Tex14 UTSW 11 87,405,256 (GRCm39) missense possibly damaging 0.48
R7675:Tex14 UTSW 11 87,400,504 (GRCm39) missense probably damaging 1.00
R7725:Tex14 UTSW 11 87,385,868 (GRCm39) missense probably damaging 0.99
R7911:Tex14 UTSW 11 87,424,428 (GRCm39) critical splice donor site probably null
R8015:Tex14 UTSW 11 87,400,426 (GRCm39) missense probably benign 0.13
R8226:Tex14 UTSW 11 87,375,585 (GRCm39) missense probably damaging 0.96
R8283:Tex14 UTSW 11 87,365,241 (GRCm39) missense probably damaging 1.00
R8292:Tex14 UTSW 11 87,388,664 (GRCm39) missense probably damaging 1.00
R8833:Tex14 UTSW 11 87,383,878 (GRCm39) missense probably benign 0.22
R8932:Tex14 UTSW 11 87,324,675 (GRCm39) missense possibly damaging 0.65
R9023:Tex14 UTSW 11 87,365,239 (GRCm39) missense
R9144:Tex14 UTSW 11 87,413,423 (GRCm39) critical splice donor site probably null
R9610:Tex14 UTSW 11 87,377,084 (GRCm39) missense probably damaging 1.00
R9611:Tex14 UTSW 11 87,377,084 (GRCm39) missense probably damaging 1.00
RF018:Tex14 UTSW 11 87,405,572 (GRCm39) missense probably benign 0.01
X0017:Tex14 UTSW 11 87,426,375 (GRCm39) nonsense probably null
Z1176:Tex14 UTSW 11 87,390,419 (GRCm39) missense possibly damaging 0.95
Z1176:Tex14 UTSW 11 87,375,633 (GRCm39) missense probably benign 0.08
Z1177:Tex14 UTSW 11 87,404,981 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGTCGATTTCTTCAGCTGCTAG -3'
(R):5'- AATGAGCTCTCCCTGCAACC -3'

Sequencing Primer
(F):5'- GCTGCTAGTCACTATGAAGACTGC -3'
(R):5'- TTCCACAATGCAGTCTCTGGAGAG -3'
Posted On 2015-10-21