Incidental Mutation 'R8253:Fam13c'
ID 640140
Institutional Source Beutler Lab
Gene Symbol Fam13c
Ensembl Gene ENSMUSG00000043259
Gene Name family with sequence similarity 13, member C
Synonyms C030038O19Rik, 1200015N20Rik
MMRRC Submission 067679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R8253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 70276311-70394566 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70389033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 520 (S520P)
Ref Sequence ENSEMBL: ENSMUSP00000051375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046513] [ENSMUST00000062883] [ENSMUST00000105436] [ENSMUST00000173042]
AlphaFold Q9DBR2
Predicted Effect probably benign
Transcript: ENSMUST00000046513
SMART Domains Protein: ENSMUSP00000045807
Gene: ENSMUSG00000037747

DomainStartEndE-ValueType
FN3 49 142 6.16e-2 SMART
Blast:FN3 188 262 2e-45 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000062883
AA Change: S520P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051375
Gene: ENSMUSG00000043259
AA Change: S520P

DomainStartEndE-ValueType
low complexity region 200 222 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
coiled coil region 304 372 N/A INTRINSIC
coiled coil region 529 557 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105436
AA Change: S438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101076
Gene: ENSMUSG00000043259
AA Change: S438P

DomainStartEndE-ValueType
low complexity region 118 140 N/A INTRINSIC
low complexity region 192 212 N/A INTRINSIC
coiled coil region 222 290 N/A INTRINSIC
coiled coil region 447 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173042
AA Change: S519P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134648
Gene: ENSMUSG00000043259
AA Change: S519P

DomainStartEndE-ValueType
low complexity region 200 222 N/A INTRINSIC
low complexity region 274 294 N/A INTRINSIC
coiled coil region 304 372 N/A INTRINSIC
coiled coil region 528 556 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,874,702 (GRCm39) E493G probably benign Het
Akr1a1 A T 4: 116,493,840 (GRCm39) D313E probably damaging Het
Ap1m1 T A 8: 73,006,730 (GRCm39) V242E probably damaging Het
Atad2b T A 12: 5,024,159 (GRCm39) S670T possibly damaging Het
Atad2b C T 12: 5,024,160 (GRCm39) S670L probably benign Het
Atp23 C T 10: 126,704,543 (GRCm39) G197S probably benign Het
Avpr1b A T 1: 131,537,154 (GRCm39) T313S probably benign Het
Cblc A G 7: 19,520,157 (GRCm39) I362T probably damaging Het
Ccdc171 T A 4: 83,661,207 (GRCm39) S1106T probably damaging Het
Cimap3 T C 3: 105,905,683 (GRCm39) M193V probably benign Het
Csde1 C A 3: 102,946,037 (GRCm39) N10K probably damaging Het
Csnk2a2 T C 8: 96,215,005 (GRCm39) Y24C Het
Cyb5r4 G T 9: 86,941,108 (GRCm39) L420F probably damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dner C T 1: 84,512,598 (GRCm39) G323E probably damaging Het
Elf1 T C 14: 79,773,792 (GRCm39) M1T probably null Het
Fhip1b T A 7: 105,028,294 (GRCm39) H885L possibly damaging Het
Gabra2 A G 5: 71,249,413 (GRCm39) I30T probably benign Het
Gm6793 T A 8: 112,741,640 (GRCm39) M1L probably benign Het
Inpp5a T C 7: 139,061,556 (GRCm39) L76P probably damaging Het
Itih5 T C 2: 10,243,406 (GRCm39) I381T probably benign Het
Lyrm7 T C 11: 54,741,227 (GRCm39) I36V probably null Het
Magi2 A G 5: 20,814,305 (GRCm39) I906V probably benign Het
Mup5 C T 4: 61,752,811 (GRCm39) A71T probably benign Het
Ndufaf6 G A 4: 11,059,086 (GRCm39) R248W probably damaging Het
Or52z14 A T 7: 103,253,538 (GRCm39) I226L possibly damaging Het
Or5p50 A G 7: 107,421,776 (GRCm39) I300T probably damaging Het
Palm A T 10: 79,643,511 (GRCm39) K80* probably null Het
Pcyox1 C T 6: 86,366,044 (GRCm39) R390K probably benign Het
Pdx1 T C 5: 147,207,459 (GRCm39) probably null Het
Pkp2 T A 16: 16,086,406 (GRCm39) V689D probably damaging Het
Prkar2a G T 9: 108,617,638 (GRCm39) R232L probably damaging Het
Rasgrp4 C T 7: 28,838,287 (GRCm39) T87M possibly damaging Het
Ryr2 T A 13: 11,842,439 (GRCm39) Q486L possibly damaging Het
Shd T C 17: 56,283,295 (GRCm39) V309A Het
Skint7 C T 4: 111,834,675 (GRCm39) Q20* probably null Het
Slc35g1 C A 19: 38,391,237 (GRCm39) T173K probably damaging Het
Slit2 T C 5: 48,433,013 (GRCm39) F1073L probably benign Het
Snx18 T A 13: 113,731,317 (GRCm39) D559V probably damaging Het
Tbr1 G T 2: 61,635,585 (GRCm39) Q178H probably benign Het
Tmem145 T G 7: 25,006,939 (GRCm39) Y114D probably damaging Het
Ttc22 T C 4: 106,495,717 (GRCm39) L357P probably damaging Het
Uba2 T C 7: 33,850,323 (GRCm39) M377V probably damaging Het
Vps13c T A 9: 67,850,770 (GRCm39) Y2242* probably null Het
Xdh T G 17: 74,225,377 (GRCm39) Q475P possibly damaging Het
Zbtb42 T G 12: 112,646,746 (GRCm39) L307R probably damaging Het
Other mutations in Fam13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Fam13c APN 10 70,284,646 (GRCm39) critical splice donor site probably null
IGL02060:Fam13c APN 10 70,388,971 (GRCm39) missense probably damaging 1.00
IGL03218:Fam13c APN 10 70,284,599 (GRCm39) missense possibly damaging 0.46
R0270:Fam13c UTSW 10 70,380,343 (GRCm39) missense probably benign 0.05
R0418:Fam13c UTSW 10 70,370,591 (GRCm39) missense probably damaging 1.00
R0617:Fam13c UTSW 10 70,372,182 (GRCm39) splice site probably benign
R1712:Fam13c UTSW 10 70,390,403 (GRCm39) missense possibly damaging 0.80
R1967:Fam13c UTSW 10 70,387,565 (GRCm39) missense probably damaging 1.00
R2165:Fam13c UTSW 10 70,378,523 (GRCm39) missense probably damaging 1.00
R3836:Fam13c UTSW 10 70,378,478 (GRCm39) missense probably damaging 1.00
R3837:Fam13c UTSW 10 70,378,478 (GRCm39) missense probably damaging 1.00
R3838:Fam13c UTSW 10 70,378,478 (GRCm39) missense probably damaging 1.00
R3839:Fam13c UTSW 10 70,378,478 (GRCm39) missense probably damaging 1.00
R4059:Fam13c UTSW 10 70,390,338 (GRCm39) missense probably damaging 1.00
R4768:Fam13c UTSW 10 70,387,580 (GRCm39) missense probably damaging 0.96
R4951:Fam13c UTSW 10 70,387,621 (GRCm39) critical splice donor site probably null
R5259:Fam13c UTSW 10 70,276,893 (GRCm39) missense probably benign 0.16
R5384:Fam13c UTSW 10 70,388,899 (GRCm39) missense probably benign 0.03
R5715:Fam13c UTSW 10 70,370,670 (GRCm39) missense probably damaging 1.00
R6322:Fam13c UTSW 10 70,334,721 (GRCm39) missense probably damaging 0.99
R6404:Fam13c UTSW 10 70,284,646 (GRCm39) critical splice donor site probably null
R6723:Fam13c UTSW 10 70,390,355 (GRCm39) missense probably damaging 1.00
R7111:Fam13c UTSW 10 70,390,336 (GRCm39) missense probably benign 0.23
R8306:Fam13c UTSW 10 70,388,983 (GRCm39) missense probably benign 0.00
R8748:Fam13c UTSW 10 70,378,516 (GRCm39) missense probably damaging 1.00
R9112:Fam13c UTSW 10 70,286,978 (GRCm39) missense probably benign 0.08
R9206:Fam13c UTSW 10 70,388,869 (GRCm39) missense probably damaging 1.00
R9208:Fam13c UTSW 10 70,388,869 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGACATGAAGCACTCTG -3'
(R):5'- TTCCCAGTTGAGAAGCCAAC -3'

Sequencing Primer
(F):5'- CATGAAGCACTCTGTGACTATTTGGC -3'
(R):5'- AAGCCAACTGGATGGTGCATTTTTAG -3'
Posted On 2020-07-28