Incidental Mutation 'R8324:Fam234a'
ID 644024
Institutional Source Beutler Lab
Gene Symbol Fam234a
Ensembl Gene ENSMUSG00000024187
Gene Name family with sequence similarity 234, member A
Synonyms Itfg3
MMRRC Submission 067725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8324 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 26431673-26463216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26437672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 108 (V108I)
Ref Sequence ENSEMBL: ENSMUSP00000110639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114988] [ENSMUST00000118487] [ENSMUST00000151293]
AlphaFold Q8C0Z1
Predicted Effect probably benign
Transcript: ENSMUST00000114988
AA Change: V108I

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
AA Change: V108I

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 415 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118487
AA Change: V108I

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187
AA Change: V108I

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 415 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141240
Predicted Effect probably benign
Transcript: ENSMUST00000151293
SMART Domains Protein: ENSMUSP00000117020
Gene: ENSMUSG00000024187

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,395 (GRCm39) S753P probably damaging Het
Acan A G 7: 78,740,804 (GRCm39) E390G probably damaging Het
Antxr2 T C 5: 98,086,368 (GRCm39) N413S probably damaging Het
Bace2 C T 16: 97,158,108 (GRCm39) A36V possibly damaging Het
Caprin1 G A 2: 103,613,526 (GRCm39) R79* probably null Het
Cdan1 A G 2: 120,557,806 (GRCm39) V507A probably benign Het
Cdkl3 T A 11: 51,913,706 (GRCm39) probably null Het
Chst5 A T 8: 112,617,140 (GRCm39) L160Q probably benign Het
Col11a1 C G 3: 113,958,059 (GRCm39) P1111R probably damaging Het
Col6a6 T A 9: 105,632,853 (GRCm39) E1470D probably benign Het
Cpped1 T A 16: 11,623,340 (GRCm39) T274S probably benign Het
Ctnnbl1 G A 2: 157,621,735 (GRCm39) E75K probably damaging Het
Cyp4f40 T C 17: 32,878,502 (GRCm39) S15P probably benign Het
Ddx46 T C 13: 55,811,727 (GRCm39) S643P probably damaging Het
Defb34 A G 8: 19,173,814 (GRCm39) Q16R probably null Het
Dhrs2 T A 14: 55,476,221 (GRCm39) V147E probably damaging Het
Dnah5 G T 15: 28,347,011 (GRCm39) R2498L probably damaging Het
Dpp10 T A 1: 123,781,901 (GRCm39) I93F probably benign Het
Eef1e1 T A 13: 38,839,045 (GRCm39) D104V probably damaging Het
Egfr A G 11: 16,808,971 (GRCm39) Y55C probably damaging Het
Egfr A C 11: 16,858,885 (GRCm39) I955L probably damaging Het
Ehbp1l1 C A 19: 5,770,026 (GRCm39) V426F possibly damaging Het
Elp1 C T 4: 56,772,491 (GRCm39) E877K probably damaging Het
Fzd8 T A 18: 9,214,688 (GRCm39) M590K probably damaging Het
Gm13287 T C 4: 88,721,875 (GRCm39) S129P probably damaging Het
Heatr5b A G 17: 79,062,793 (GRCm39) S1919P possibly damaging Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Itpr2 T C 6: 146,229,896 (GRCm39) E1233G probably damaging Het
Kcnmb4 A G 10: 116,254,219 (GRCm39) L186P probably damaging Het
Krt72 T A 15: 101,690,580 (GRCm39) Y224F probably damaging Het
Loxhd1 T C 18: 77,427,275 (GRCm39) probably null Het
Lrguk A G 6: 34,079,506 (GRCm39) T914A probably benign Het
Lrrtm4 A G 6: 79,998,974 (GRCm39) T129A probably damaging Het
Mmp13 A T 9: 7,276,636 (GRCm39) I244F possibly damaging Het
Mob1a T A 6: 83,306,956 (GRCm39) L41Q probably damaging Het
Mtcl1 T C 17: 66,743,212 (GRCm39) R426G probably damaging Het
Mybbp1a T C 11: 72,336,114 (GRCm39) probably null Het
Myh9 A G 15: 77,673,117 (GRCm39) probably null Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Ncapg T G 5: 45,853,010 (GRCm39) H825Q probably damaging Het
Olfml1 T C 7: 107,189,570 (GRCm39) S212P probably benign Het
Or52p1 G A 7: 104,267,321 (GRCm39) R145H probably benign Het
Pak2 T C 16: 31,871,029 (GRCm39) N51S probably benign Het
Papln T C 12: 83,833,393 (GRCm39) Y1132H probably damaging Het
Pax3 T A 1: 78,170,426 (GRCm39) R134S probably damaging Het
Pdzrn4 A G 15: 92,668,818 (GRCm39) E990G probably damaging Het
Peak1 A T 9: 56,114,760 (GRCm39) W1394R probably damaging Het
Pkn2 T C 3: 142,534,771 (GRCm39) N285D probably benign Het
Pramel13 A C 4: 144,122,427 (GRCm39) L39R probably damaging Het
Prrc2a A G 17: 35,375,960 (GRCm39) S897P possibly damaging Het
Rad51 A G 2: 118,954,312 (GRCm39) T131A possibly damaging Het
Rc3h2 T A 2: 37,290,738 (GRCm39) T255S possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rictor T A 15: 6,775,043 (GRCm39) V125E probably damaging Het
Rps6ka5 C T 12: 100,524,746 (GRCm39) D664N possibly damaging Het
Rreb1 T A 13: 38,131,597 (GRCm39) W1584R probably damaging Het
Rxra T C 2: 27,631,195 (GRCm39) I142T probably damaging Het
Sall2 T C 14: 52,550,343 (GRCm39) T951A probably benign Het
Slc15a2 T G 16: 36,579,669 (GRCm39) N359T probably damaging Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc6a13 T C 6: 121,314,373 (GRCm39) *603Q probably null Het
Sptb T C 12: 76,665,936 (GRCm39) D894G possibly damaging Het
Srgn A G 10: 62,343,444 (GRCm39) L17P probably damaging Het
Tmprss9 T C 10: 80,733,205 (GRCm39) probably null Het
Trav9n-4 T C 14: 53,532,403 (GRCm39) F86L probably benign Het
Trp63 A G 16: 25,695,484 (GRCm39) Y482C unknown Het
Ttc9b G T 7: 27,353,394 (GRCm39) A15S probably damaging Het
Urb1 A T 16: 90,588,078 (GRCm39) I410N probably damaging Het
Vmn2r82 A T 10: 79,214,727 (GRCm39) K237* probably null Het
Wwox G A 8: 115,215,745 (GRCm39) probably null Het
Other mutations in Fam234a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Fam234a APN 17 26,432,500 (GRCm39) missense probably damaging 1.00
IGL02635:Fam234a APN 17 26,433,427 (GRCm39) missense possibly damaging 0.63
R0269:Fam234a UTSW 17 26,435,591 (GRCm39) missense probably benign
R0617:Fam234a UTSW 17 26,435,591 (GRCm39) missense probably benign
R1687:Fam234a UTSW 17 26,434,282 (GRCm39) missense probably damaging 1.00
R1971:Fam234a UTSW 17 26,435,629 (GRCm39) splice site probably null
R2016:Fam234a UTSW 17 26,437,290 (GRCm39) missense probably benign 0.07
R3826:Fam234a UTSW 17 26,437,163 (GRCm39) missense probably benign
R3827:Fam234a UTSW 17 26,437,163 (GRCm39) missense probably benign
R3829:Fam234a UTSW 17 26,437,163 (GRCm39) missense probably benign
R4133:Fam234a UTSW 17 26,432,532 (GRCm39) missense probably damaging 0.99
R4190:Fam234a UTSW 17 26,432,834 (GRCm39) missense probably damaging 0.98
R4193:Fam234a UTSW 17 26,432,834 (GRCm39) missense probably damaging 0.98
R4858:Fam234a UTSW 17 26,435,591 (GRCm39) missense probably benign
R4885:Fam234a UTSW 17 26,432,559 (GRCm39) missense probably benign 0.00
R5117:Fam234a UTSW 17 26,432,512 (GRCm39) missense probably benign 0.18
R5719:Fam234a UTSW 17 26,433,627 (GRCm39) missense possibly damaging 0.52
R5735:Fam234a UTSW 17 26,432,679 (GRCm39) missense probably damaging 1.00
R6271:Fam234a UTSW 17 26,437,211 (GRCm39) missense probably benign 0.19
R6341:Fam234a UTSW 17 26,432,667 (GRCm39) missense probably damaging 1.00
R6365:Fam234a UTSW 17 26,439,429 (GRCm39) nonsense probably null
R6621:Fam234a UTSW 17 26,432,855 (GRCm39) missense probably damaging 1.00
R7393:Fam234a UTSW 17 26,435,598 (GRCm39) missense probably benign 0.01
R7801:Fam234a UTSW 17 26,437,172 (GRCm39) missense probably benign 0.00
R7956:Fam234a UTSW 17 26,435,551 (GRCm39) missense probably damaging 1.00
R8393:Fam234a UTSW 17 26,437,149 (GRCm39) missense probably damaging 1.00
R8804:Fam234a UTSW 17 26,435,531 (GRCm39) critical splice donor site probably benign
R9417:Fam234a UTSW 17 26,435,225 (GRCm39) missense probably benign
R9740:Fam234a UTSW 17 26,432,789 (GRCm39) missense probably damaging 0.99
R9758:Fam234a UTSW 17 26,432,627 (GRCm39) missense probably benign 0.00
RF020:Fam234a UTSW 17 26,437,725 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- TAAGGGAGCTAACAGTATTACCTC -3'
(R):5'- TCTTATTGGCAGCAGGGGTC -3'

Sequencing Primer
(F):5'- GGAAAATATGATGAAGTGGTTCCCTC -3'
(R):5'- TCCTCACAGTGGCAAGTTG -3'
Posted On 2020-09-02