Incidental Mutation 'R7744:Fndc3a'
ID 596755
Institutional Source Beutler Lab
Gene Symbol Fndc3a
Ensembl Gene ENSMUSG00000033487
Gene Name fibronectin type III domain containing 3A
Synonyms sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik
MMRRC Submission 045800-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # R7744 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 72775386-72947443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72799156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 609 (G609V)
Ref Sequence ENSEMBL: ENSMUSP00000086411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089017] [ENSMUST00000162478]
AlphaFold Q8BX90
Predicted Effect possibly damaging
Transcript: ENSMUST00000089017
AA Change: G609V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: G609V

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
FN3 266 358 3.05e-6 SMART
FN3 371 452 3.42e-9 SMART
FN3 467 549 1.84e-9 SMART
FN3 564 647 1.06e-5 SMART
FN3 662 744 2.19e-7 SMART
FN3 759 838 5.48e-8 SMART
FN3 864 937 2.28e-5 SMART
FN3 951 1032 3.22e-5 SMART
FN3 1047 1127 5.63e0 SMART
transmembrane domain 1175 1197 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162478
SMART Domains Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
FN3 266 358 3.05e-6 SMART
FN3 371 452 3.42e-9 SMART
Pfam:fn3 468 540 1.9e-6 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: G564V

DomainStartEndE-ValueType
low complexity region 76 92 N/A INTRINSIC
low complexity region 158 172 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
FN3 222 314 3.05e-6 SMART
FN3 327 408 3.42e-9 SMART
FN3 423 505 1.84e-9 SMART
FN3 520 603 1.06e-5 SMART
FN3 618 700 2.19e-7 SMART
FN3 715 794 5.48e-8 SMART
FN3 820 893 2.28e-5 SMART
FN3 907 988 3.22e-5 SMART
FN3 1003 1083 5.63e0 SMART
transmembrane domain 1131 1153 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Males homozygous for an insertional mutation are sterile; females are fertile. In mutant males, spermatids form multinucleated syncytia and fail to mature, while Sertoli cells exhibit abnormal cytoplasmic vacuoles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Abi2 A G 1: 60,476,362 (GRCm39) I145V probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Atf7ip2 T A 16: 10,059,522 (GRCm39) V354E possibly damaging Het
Bglap T C 3: 88,290,958 (GRCm39) Y91C probably damaging Het
Cacna1e A T 1: 154,341,538 (GRCm39) S1219T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cd177 A G 7: 24,449,800 (GRCm39) C562R probably damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chd7 T A 4: 8,862,485 (GRCm39) probably null Het
Dyrk3 A G 1: 131,057,543 (GRCm39) V210A probably damaging Het
Eif3c C A 7: 126,158,066 (GRCm39) G297W probably damaging Het
Eml1 A G 12: 108,482,863 (GRCm39) H494R probably benign Het
Enpp2 A T 15: 54,764,629 (GRCm39) probably null Het
Fbxw21 C A 9: 108,986,720 (GRCm39) C53F possibly damaging Het
Grid1 A G 14: 35,172,036 (GRCm39) D514G probably damaging Het
Gxylt2 T C 6: 100,760,278 (GRCm39) V271A probably damaging Het
Hes1 A G 16: 29,884,997 (GRCm39) K74R probably damaging Het
Igsf9 A G 1: 172,319,752 (GRCm39) N349S probably benign Het
Isx T A 8: 75,600,285 (GRCm39) I6N possibly damaging Het
Kcnb1 A T 2: 167,030,251 (GRCm39) F98Y probably damaging Het
Kif1b G C 4: 149,321,532 (GRCm39) T1129R possibly damaging Het
Klra10 T A 6: 130,249,724 (GRCm39) probably null Het
Mcm10 A T 2: 4,996,253 (GRCm39) L870Q probably damaging Het
Mettl16 T A 11: 74,693,829 (GRCm39) I280K probably benign Het
Mre11a G A 9: 14,721,128 (GRCm39) R349Q possibly damaging Het
Mrpl10 C T 11: 96,935,402 (GRCm39) T34I probably damaging Het
Muc16 T A 9: 18,496,392 (GRCm39) probably null Het
Myt1l T C 12: 29,877,548 (GRCm39) C400R unknown Het
Nbr1 C T 11: 101,460,210 (GRCm39) T402M probably damaging Het
Ndufs1 A G 1: 63,200,099 (GRCm39) M271T possibly damaging Het
Or10q1 A G 19: 13,727,419 (GRCm39) *316W probably null Het
Or4c29 C T 2: 88,740,003 (GRCm39) V245I possibly damaging Het
Or51f23c-ps1 G T 7: 102,431,597 (GRCm39) V305L probably benign Het
Pakap T C 4: 57,709,519 (GRCm39) S155P probably damaging Het
Pced1a C T 2: 130,263,972 (GRCm39) D227N probably damaging Het
Phf21b A G 15: 84,689,070 (GRCm39) I152T probably damaging Het
Pla2g4a A G 1: 149,736,853 (GRCm39) V430A probably benign Het
Plbd1 T C 6: 136,594,244 (GRCm39) E335G probably benign Het
Plce1 G A 19: 38,608,899 (GRCm39) V403M possibly damaging Het
Pnpla6 T A 8: 3,581,677 (GRCm39) N642K probably benign Het
Ptprb T C 10: 116,113,389 (GRCm39) I123T probably benign Het
Rab3il1 T A 19: 10,005,641 (GRCm39) probably null Het
Ranbp3 C T 17: 57,015,219 (GRCm39) T307M possibly damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rgl3 T C 9: 21,898,866 (GRCm39) K191R probably benign Het
Rnf223 G A 4: 156,216,982 (GRCm39) R119H probably benign Het
Sapcd2 C T 2: 25,263,508 (GRCm39) P217S unknown Het
Setd7 C T 3: 51,434,261 (GRCm39) probably null Het
Sh3bp1 A C 15: 78,794,209 (GRCm39) T526P possibly damaging Het
Slc17a4 C A 13: 24,085,767 (GRCm39) W382L probably benign Het
Slc26a3 A T 12: 31,513,464 (GRCm39) probably null Het
Tmem129 A G 5: 33,811,732 (GRCm39) L356P probably damaging Het
Trib1 T A 15: 59,526,512 (GRCm39) Y361N probably benign Het
Xirp1 T A 9: 119,845,912 (GRCm39) R990S possibly damaging Het
Zfp950 A C 19: 61,116,010 (GRCm39) probably null Het
Other mutations in Fndc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Fndc3a APN 14 72,796,797 (GRCm39) splice site probably benign
IGL01120:Fndc3a APN 14 72,794,102 (GRCm39) missense probably benign 0.05
IGL01577:Fndc3a APN 14 72,827,298 (GRCm39) missense probably damaging 0.99
IGL01810:Fndc3a APN 14 72,803,581 (GRCm39) missense probably benign 0.01
IGL01965:Fndc3a APN 14 72,777,842 (GRCm39) missense probably benign 0.09
IGL01992:Fndc3a APN 14 72,811,996 (GRCm39) missense probably benign 0.25
IGL02244:Fndc3a APN 14 72,793,807 (GRCm39) splice site probably benign
IGL02639:Fndc3a APN 14 72,811,797 (GRCm39) missense probably benign 0.08
IGL03076:Fndc3a APN 14 72,793,908 (GRCm39) missense possibly damaging 0.82
IGL03096:Fndc3a APN 14 72,836,559 (GRCm39) missense probably damaging 1.00
PIT4677001:Fndc3a UTSW 14 72,812,035 (GRCm39) missense probably benign 0.02
R0112:Fndc3a UTSW 14 72,777,935 (GRCm39) splice site probably benign
R0379:Fndc3a UTSW 14 72,794,049 (GRCm39) missense probably damaging 1.00
R0381:Fndc3a UTSW 14 72,794,067 (GRCm39) missense probably benign 0.05
R0544:Fndc3a UTSW 14 72,795,062 (GRCm39) splice site probably benign
R1079:Fndc3a UTSW 14 72,827,247 (GRCm39) missense possibly damaging 0.81
R1299:Fndc3a UTSW 14 72,803,638 (GRCm39) splice site probably benign
R1424:Fndc3a UTSW 14 72,811,811 (GRCm39) missense probably damaging 1.00
R1453:Fndc3a UTSW 14 72,777,768 (GRCm39) nonsense probably null
R1478:Fndc3a UTSW 14 72,795,072 (GRCm39) critical splice donor site probably null
R1573:Fndc3a UTSW 14 72,806,384 (GRCm39) missense probably damaging 0.98
R1574:Fndc3a UTSW 14 72,793,997 (GRCm39) missense probably damaging 1.00
R1574:Fndc3a UTSW 14 72,793,997 (GRCm39) missense probably damaging 1.00
R1743:Fndc3a UTSW 14 72,889,521 (GRCm39) missense probably damaging 1.00
R1852:Fndc3a UTSW 14 72,794,283 (GRCm39) missense probably damaging 0.96
R2097:Fndc3a UTSW 14 72,811,791 (GRCm39) critical splice donor site probably null
R2396:Fndc3a UTSW 14 72,921,123 (GRCm39) missense possibly damaging 0.92
R2512:Fndc3a UTSW 14 72,793,715 (GRCm39) missense probably benign 0.00
R3722:Fndc3a UTSW 14 72,777,648 (GRCm39) missense probably benign 0.39
R5470:Fndc3a UTSW 14 72,812,008 (GRCm39) missense possibly damaging 0.83
R5757:Fndc3a UTSW 14 72,794,025 (GRCm39) missense probably benign
R5931:Fndc3a UTSW 14 72,806,307 (GRCm39) missense probably benign
R6188:Fndc3a UTSW 14 72,827,401 (GRCm39) missense probably damaging 0.99
R6297:Fndc3a UTSW 14 72,800,980 (GRCm39) missense probably damaging 0.98
R6638:Fndc3a UTSW 14 72,796,688 (GRCm39) nonsense probably null
R7221:Fndc3a UTSW 14 72,793,597 (GRCm39) missense probably benign
R7571:Fndc3a UTSW 14 72,827,336 (GRCm39) missense probably damaging 0.99
R7677:Fndc3a UTSW 14 72,804,854 (GRCm39) missense probably benign
R7849:Fndc3a UTSW 14 72,802,100 (GRCm39) missense probably benign 0.01
R8027:Fndc3a UTSW 14 72,790,983 (GRCm39) missense probably benign 0.04
R8152:Fndc3a UTSW 14 72,811,820 (GRCm39) missense probably damaging 1.00
R8225:Fndc3a UTSW 14 72,795,117 (GRCm39) missense probably benign 0.00
R8295:Fndc3a UTSW 14 72,789,959 (GRCm39) missense probably benign 0.03
R8799:Fndc3a UTSW 14 72,793,955 (GRCm39) missense probably benign 0.00
R8955:Fndc3a UTSW 14 72,794,410 (GRCm39) missense probably benign
R9019:Fndc3a UTSW 14 72,811,840 (GRCm39) missense probably benign 0.01
R9120:Fndc3a UTSW 14 72,802,133 (GRCm39) missense probably benign
R9155:Fndc3a UTSW 14 72,921,162 (GRCm39) missense possibly damaging 0.50
R9281:Fndc3a UTSW 14 72,799,097 (GRCm39) missense probably benign 0.00
R9512:Fndc3a UTSW 14 72,827,424 (GRCm39) missense probably damaging 1.00
R9742:Fndc3a UTSW 14 72,777,693 (GRCm39) nonsense probably null
R9744:Fndc3a UTSW 14 72,777,693 (GRCm39) nonsense probably null
Z1176:Fndc3a UTSW 14 72,804,813 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCACACATTTCACCAATGAGG -3'
(R):5'- ATCCATTCTTCTGTTGAGGGACATTTG -3'

Sequencing Primer
(F):5'- AGGAAATGCTGATCCTGCTC -3'
(R):5'- GACATTTGGGTTCTTTCCAGC -3'
Posted On 2019-11-26