Incidental Mutation 'IGL03237:Nelfcd'
ID414096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nelfcd
Ensembl Gene ENSMUSG00000016253
Gene Namenegative elongation factor complex member C/D, Th1l
Synonymstrihydrophobin 1, Th1l, 2410003I03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.939) question?
Stock #IGL03237
Quality Score
Status
Chromosome2
Chromosomal Location174415804-174427502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 174426832 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 559 (A559T)
Ref Sequence ENSEMBL: ENSMUSP00000016397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016397] [ENSMUST00000016400] [ENSMUST00000109075]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016397
AA Change: A559T

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016397
Gene: ENSMUSG00000016253
AA Change: A559T

DomainStartEndE-ValueType
Pfam:TH1 11 604 6.5e-276 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016400
SMART Domains Protein: ENSMUSP00000016400
Gene: ENSMUSG00000016256

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pept_C1 64 301 5.46e-51 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109075
AA Change: A543T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104703
Gene: ENSMUSG00000016253
AA Change: A543T

DomainStartEndE-ValueType
Pfam:TH1 10 590 5.6e-303 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143683
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Nelfcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Nelfcd APN 2 174423515 splice site probably benign
IGL02175:Nelfcd APN 2 174420382 missense probably benign 0.01
IGL02955:Nelfcd APN 2 174422598 missense probably damaging 0.98
IGL03193:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03194:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03203:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03217:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03273:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03278:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03289:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03365:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03398:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03405:Nelfcd APN 2 174426832 missense possibly damaging 0.87
IGL03407:Nelfcd APN 2 174426832 missense possibly damaging 0.87
R0593:Nelfcd UTSW 2 174423430 missense probably benign 0.00
R0751:Nelfcd UTSW 2 174423014 missense probably benign 0.03
R1852:Nelfcd UTSW 2 174423978 splice site probably null
R2040:Nelfcd UTSW 2 174420082 missense probably damaging 1.00
R3606:Nelfcd UTSW 2 174426544 missense probably benign 0.10
R3716:Nelfcd UTSW 2 174423005 missense possibly damaging 0.51
R4235:Nelfcd UTSW 2 174427048 missense probably damaging 1.00
R4607:Nelfcd UTSW 2 174423162 missense probably benign 0.01
R4775:Nelfcd UTSW 2 174426576 missense probably damaging 0.96
R5104:Nelfcd UTSW 2 174426366 missense probably benign 0.10
R5859:Nelfcd UTSW 2 174427063 makesense probably null
R6025:Nelfcd UTSW 2 174426818 missense probably damaging 1.00
R6104:Nelfcd UTSW 2 174423457 missense probably damaging 0.99
R6280:Nelfcd UTSW 2 174415946 missense probably benign
R7249:Nelfcd UTSW 2 174423206 critical splice donor site probably null
R7382:Nelfcd UTSW 2 174423383 missense probably benign 0.00
R7532:Nelfcd UTSW 2 174426396 missense probably damaging 1.00
R7545:Nelfcd UTSW 2 174423978 splice site probably null
R7766:Nelfcd UTSW 2 174426832 missense possibly damaging 0.87
Z1088:Nelfcd UTSW 2 174426494 frame shift probably null
Posted On2016-08-02