Incidental Mutation 'R0112:Fndc3a'
ID 20541
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 038398-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # R0112 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 72775386-72947443 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 72777935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000089017]
AlphaFold Q8BX90
Predicted Effect probably benign
Transcript: ENSMUST00000089017
SMART Domains Protein: ENSMUSP00000086411
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
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: ENSMUST00000162825
SMART Domains Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487

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: 99.0%
  • 3x: 98.1%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,244,815 (GRCm39) Y179F probably benign Het
Abcd4 A G 12: 84,659,673 (GRCm39) probably benign Het
Abhd12b C T 12: 70,227,791 (GRCm39) T191M probably benign Het
Adcy5 A G 16: 34,976,548 (GRCm39) E27G possibly damaging Het
Adgb G A 10: 10,282,902 (GRCm39) probably benign Het
Afdn T C 17: 14,104,899 (GRCm39) S1186P probably damaging Het
Atf6b G T 17: 34,870,600 (GRCm39) R351L probably damaging Het
Axin2 T C 11: 108,830,223 (GRCm39) S348P possibly damaging Het
Bfsp1 A C 2: 143,669,563 (GRCm39) probably null Het
Brd1 A G 15: 88,614,586 (GRCm39) V103A probably benign Het
Ccdc13 C A 9: 121,642,547 (GRCm39) K392N probably damaging Het
Ccdc18 A G 5: 108,321,627 (GRCm39) K577R probably damaging Het
Csmd2 G T 4: 128,389,822 (GRCm39) G2186C probably damaging Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
Defb3 T A 8: 19,343,423 (GRCm39) L12Q probably null Het
Defb7 G T 8: 19,545,186 (GRCm39) probably null Het
Dhx35 T A 2: 158,682,540 (GRCm39) M491K probably damaging Het
Dnah17 T C 11: 117,965,260 (GRCm39) S2261G possibly damaging Het
Dnah5 A C 15: 28,263,825 (GRCm39) E853D probably benign Het
Dner C A 1: 84,560,774 (GRCm39) A23S probably benign Het
Dock5 A C 14: 68,057,090 (GRCm39) S539A probably benign Het
Dsg2 T A 18: 20,716,099 (GRCm39) F317I probably benign Het
Enox1 A T 14: 77,936,638 (GRCm39) I539F possibly damaging Het
Eogt G A 6: 97,112,245 (GRCm39) probably benign Het
Fbxo22 A G 9: 55,130,630 (GRCm39) T300A probably benign Het
Fes T C 7: 80,033,753 (GRCm39) D166G probably damaging Het
Fn1 A G 1: 71,648,812 (GRCm39) S1366P probably damaging Het
Foxh1 T C 15: 76,553,210 (GRCm39) H168R probably benign Het
Galnt14 T G 17: 73,881,979 (GRCm39) probably benign Het
Gdf6 A G 4: 9,844,482 (GRCm39) D2G probably damaging Het
Gp6 C A 7: 4,373,183 (GRCm39) A247S probably benign Het
Gp6 G C 7: 4,374,626 (GRCm39) P232A probably benign Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Gtf2h4 T C 17: 35,981,340 (GRCm39) T198A possibly damaging Het
Helz T C 11: 107,563,774 (GRCm39) probably benign Het
Htr1d A G 4: 136,170,311 (GRCm39) E180G probably benign Het
Igsf10 A G 3: 59,233,429 (GRCm39) V1768A probably benign Het
Ints10 A T 8: 69,279,954 (GRCm39) T694S probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lipc T A 9: 70,727,709 (GRCm39) Y131F probably damaging Het
Litaf G T 16: 10,784,375 (GRCm39) T45K probably damaging Het
Lmo7 A T 14: 102,124,629 (GRCm39) R363* probably null Het
Lrrc37a A T 11: 103,391,739 (GRCm39) Y1229N probably benign Het
Man2a2 C T 7: 80,008,024 (GRCm39) A943T probably damaging Het
Mtor A G 4: 148,565,380 (GRCm39) Y1030C probably damaging Het
Naalad2 G T 9: 18,262,743 (GRCm39) Y384* probably null Het
Nat2 C T 8: 67,954,378 (GRCm39) Q163* probably null Het
Nell2 A G 15: 95,329,562 (GRCm39) probably benign Het
Nphp3 C T 9: 103,914,547 (GRCm39) H102Y possibly damaging Het
Olr1 T C 6: 129,465,869 (GRCm39) S46G possibly damaging Het
Or2y13 A T 11: 49,414,961 (GRCm39) H137L possibly damaging Het
Or52x1 A T 7: 104,852,866 (GRCm39) M228K probably benign Het
Or5b94 C T 19: 12,652,121 (GRCm39) T184I probably benign Het
Parg C A 14: 31,924,390 (GRCm39) A63E probably damaging Het
Pik3cg A G 12: 32,245,714 (GRCm39) probably benign Het
Ripk4 A G 16: 97,544,761 (GRCm39) C629R probably benign Het
Rnf145 A G 11: 44,454,978 (GRCm39) T620A probably benign Het
Rskr T C 11: 78,182,507 (GRCm39) probably benign Het
Samd9l T G 6: 3,376,031 (GRCm39) D410A possibly damaging Het
Serpinb9f A T 13: 33,511,934 (GRCm39) probably benign Het
Slc19a1 T C 10: 76,877,999 (GRCm39) I178T probably benign Het
Slco1b2 A T 6: 141,616,837 (GRCm39) Y390F probably benign Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Tbc1d9 C A 8: 83,991,466 (GRCm39) probably benign Het
Tmem131l G A 3: 83,847,894 (GRCm39) Q324* probably null Het
Trf A G 9: 103,104,155 (GRCm39) probably benign Het
Trp53 T G 11: 69,479,505 (GRCm39) Y202D probably damaging Het
Trpv1 T A 11: 73,144,098 (GRCm39) M618K probably damaging Het
Trrap C A 5: 144,759,571 (GRCm39) Y2250* probably null Het
Ttc3 A G 16: 94,186,181 (GRCm39) probably benign Het
Ubtfl1 T G 9: 18,321,083 (GRCm39) S204A probably benign Het
Uck2 A T 1: 167,055,340 (GRCm39) Y203N probably damaging Het
Utrn A T 10: 12,562,209 (GRCm39) L1280* probably null Het
Vmn1r178 A T 7: 23,593,609 (GRCm39) H146L possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r108 T C 17: 20,691,897 (GRCm39) M209V probably benign Het
Vmn2r9 G A 5: 108,990,991 (GRCm39) T790I probably damaging Het
Vmn2r94 C A 17: 18,463,866 (GRCm39) R808L probably benign Het
Zbtb7c A T 18: 76,269,962 (GRCm39) S17C probably damaging Het
Zfp811 C T 17: 33,016,738 (GRCm39) R434Q probably damaging Het
Zkscan6 A T 11: 65,705,689 (GRCm39) probably benign 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
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
R7744:Fndc3a UTSW 14 72,799,156 (GRCm39) missense possibly damaging 0.95
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'- ACTGCTCGTCACTTAGAGTACGCC -3'
(R):5'- AGCCATGTGCCCACAATGTCAG -3'

Sequencing Primer
(F):5'- ACTTAGAGTACGCCGGGTC -3'
(R):5'- gtgggaggtggacaggg -3'
Posted On 2013-04-11