Incidental Mutation 'R1441:Fam149a'
ID 161011
Institutional Source Beutler Lab
Gene Symbol Fam149a
Ensembl Gene ENSMUSG00000070044
Gene Name family with sequence similarity 149, member A
Synonyms
MMRRC Submission 039496-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1441 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 45789754-45835328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45808684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 150 (Q150K)
Ref Sequence ENSEMBL: ENSMUSP00000114612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]
AlphaFold Q8CFV2
Predicted Effect probably damaging
Transcript: ENSMUST00000093526
AA Change: Q231K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: Q231K

DomainStartEndE-ValueType
low complexity region 48 65 N/A INTRINSIC
low complexity region 96 111 N/A INTRINSIC
low complexity region 239 250 N/A INTRINSIC
low complexity region 262 274 N/A INTRINSIC
Pfam:DUF3719 305 370 4.3e-30 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135912
AA Change: Q184K
SMART Domains Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: Q184K

DomainStartEndE-ValueType
low complexity region 59 85 N/A INTRINSIC
low complexity region 90 108 N/A INTRINSIC
low complexity region 193 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
Pfam:DUF3719 259 324 2.7e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155230
AA Change: Q150K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: Q150K

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 55 73 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
Pfam:DUF3719 224 291 5.8e-28 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,481,194 (GRCm39) probably null Het
Ankrd16 T C 2: 11,783,557 (GRCm39) L53P probably damaging Het
Arsk A T 13: 76,223,083 (GRCm39) N171K probably benign Het
Brwd1 A C 16: 95,867,351 (GRCm39) C161W probably damaging Het
Card9 T C 2: 26,249,402 (GRCm39) N53S probably benign Het
Ccdc13 A T 9: 121,642,515 (GRCm39) V403E probably benign Het
Ccdc83 T A 7: 89,893,351 (GRCm39) E135D probably damaging Het
Ccser1 C T 6: 62,357,016 (GRCm39) T818I probably benign Het
Cd44 T A 2: 102,676,763 (GRCm39) T301S probably damaging Het
Eepd1 G A 9: 25,394,499 (GRCm39) M254I probably benign Het
Ephb4 C T 5: 137,359,509 (GRCm39) R360C probably damaging Het
G6pc2 G A 2: 69,051,198 (GRCm39) C97Y probably damaging Het
Gcsam T A 16: 45,433,401 (GRCm39) M15K probably benign Het
Impdh2 C A 9: 108,441,975 (GRCm39) T201K probably benign Het
Kdm2b C T 5: 123,070,943 (GRCm39) E379K probably benign Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Mink1 T A 11: 70,497,940 (GRCm39) N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 (GRCm39) P330L probably damaging Het
Mroh2a A G 1: 88,169,353 (GRCm39) D676G possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Naip5 T C 13: 100,356,225 (GRCm39) H1130R possibly damaging Het
Ninl C A 2: 150,813,044 (GRCm39) G204V probably benign Het
Or12k5 C A 2: 36,895,131 (GRCm39) R165L possibly damaging Het
Or2a54 T C 6: 43,092,880 (GRCm39) V68A probably benign Het
Or4k51 T C 2: 111,585,347 (GRCm39) F251S probably damaging Het
Or5ac20 G A 16: 59,104,228 (GRCm39) L211F probably benign Het
Or5an11 T A 19: 12,245,750 (GRCm39) L52* probably null Het
Or8c15 T C 9: 38,120,777 (GRCm39) C141R probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pip4p2 A T 4: 14,892,477 (GRCm39) I114L possibly damaging Het
Ptpn22 G T 3: 103,781,563 (GRCm39) W114L probably damaging Het
Rasa1 C T 13: 85,400,540 (GRCm39) probably null Het
Rbks C T 5: 31,817,341 (GRCm39) V143I probably benign Het
Rbm19 T C 5: 120,269,241 (GRCm39) F515L probably damaging Het
Ror1 A G 4: 100,298,180 (GRCm39) T518A probably benign Het
Rpusd4 C A 9: 35,184,065 (GRCm39) A240E probably damaging Het
Rufy3 T C 5: 88,780,374 (GRCm39) L374P probably damaging Het
Sf3a3 T C 4: 124,618,935 (GRCm39) S299P probably damaging Het
Slc7a12 T G 3: 14,562,414 (GRCm39) S264A possibly damaging Het
Tasor T A 14: 27,186,217 (GRCm39) C805* probably null Het
Tm9sf1 T C 14: 55,873,782 (GRCm39) Y572C probably damaging Het
Tpcn2 G A 7: 144,813,871 (GRCm39) S475L probably benign Het
Trim17 A G 11: 58,856,018 (GRCm39) D25G probably damaging Het
Ttn T A 2: 76,572,121 (GRCm39) K26257N probably damaging Het
Txndc11 C A 16: 10,952,414 (GRCm39) probably benign Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn2r58 G A 7: 41,486,864 (GRCm39) T677I probably damaging Het
Other mutations in Fam149a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Fam149a APN 8 45,792,380 (GRCm39) missense probably damaging 1.00
IGL00229:Fam149a APN 8 45,804,823 (GRCm39) missense probably damaging 0.98
IGL01089:Fam149a APN 8 45,801,564 (GRCm39) missense possibly damaging 0.95
IGL01578:Fam149a APN 8 45,803,479 (GRCm39) missense probably damaging 1.00
IGL03095:Fam149a APN 8 45,794,265 (GRCm39) missense probably damaging 1.00
IGL03112:Fam149a APN 8 45,801,580 (GRCm39) missense possibly damaging 0.78
guangxi UTSW 8 45,834,778 (GRCm39) missense probably damaging 1.00
PIT1430001:Fam149a UTSW 8 45,804,743 (GRCm39) missense probably benign 0.00
R0111:Fam149a UTSW 8 45,794,183 (GRCm39) splice site probably benign
R0113:Fam149a UTSW 8 45,794,061 (GRCm39) missense probably damaging 1.00
R0452:Fam149a UTSW 8 45,808,686 (GRCm39) missense probably damaging 1.00
R0604:Fam149a UTSW 8 45,798,045 (GRCm39) missense probably damaging 1.00
R1672:Fam149a UTSW 8 45,792,411 (GRCm39) critical splice acceptor site probably null
R1861:Fam149a UTSW 8 45,792,399 (GRCm39) nonsense probably null
R1981:Fam149a UTSW 8 45,834,778 (GRCm39) missense probably damaging 1.00
R2173:Fam149a UTSW 8 45,806,991 (GRCm39) missense probably damaging 1.00
R2211:Fam149a UTSW 8 45,794,046 (GRCm39) missense probably damaging 0.99
R3807:Fam149a UTSW 8 45,834,647 (GRCm39) missense possibly damaging 0.91
R4176:Fam149a UTSW 8 45,794,321 (GRCm39) missense probably benign 0.41
R4913:Fam149a UTSW 8 45,806,920 (GRCm39) missense probably damaging 1.00
R5158:Fam149a UTSW 8 45,803,472 (GRCm39) missense possibly damaging 0.51
R5172:Fam149a UTSW 8 45,797,690 (GRCm39) missense probably damaging 0.99
R5436:Fam149a UTSW 8 45,801,508 (GRCm39) missense probably benign 0.21
R6060:Fam149a UTSW 8 45,811,799 (GRCm39) intron probably benign
R6426:Fam149a UTSW 8 45,834,611 (GRCm39) missense probably benign
R6590:Fam149a UTSW 8 45,802,071 (GRCm39) missense probably damaging 1.00
R6596:Fam149a UTSW 8 45,834,667 (GRCm39) missense probably benign 0.25
R6690:Fam149a UTSW 8 45,802,071 (GRCm39) missense probably damaging 1.00
R6730:Fam149a UTSW 8 45,834,211 (GRCm39) missense probably damaging 1.00
R6734:Fam149a UTSW 8 45,834,478 (GRCm39) missense probably benign
R6916:Fam149a UTSW 8 45,803,443 (GRCm39) missense probably damaging 1.00
R7088:Fam149a UTSW 8 45,803,582 (GRCm39) missense probably benign 0.08
R7219:Fam149a UTSW 8 45,803,600 (GRCm39) missense possibly damaging 0.94
R7352:Fam149a UTSW 8 45,794,034 (GRCm39) missense probably damaging 0.98
R7454:Fam149a UTSW 8 45,801,583 (GRCm39) missense probably benign 0.29
R7591:Fam149a UTSW 8 45,803,472 (GRCm39) missense possibly damaging 0.89
R7788:Fam149a UTSW 8 45,834,554 (GRCm39) missense probably damaging 1.00
R7846:Fam149a UTSW 8 45,811,678 (GRCm39) missense
R7915:Fam149a UTSW 8 45,794,280 (GRCm39) missense probably benign
R8036:Fam149a UTSW 8 45,802,048 (GRCm39) missense probably benign 0.00
R8181:Fam149a UTSW 8 45,834,755 (GRCm39) missense possibly damaging 0.92
R8239:Fam149a UTSW 8 45,803,490 (GRCm39) missense possibly damaging 0.48
R8246:Fam149a UTSW 8 45,834,655 (GRCm39) missense probably benign 0.00
R8532:Fam149a UTSW 8 45,801,991 (GRCm39) missense possibly damaging 0.80
R8856:Fam149a UTSW 8 45,834,611 (GRCm39) missense
R8986:Fam149a UTSW 8 45,811,837 (GRCm39) missense
R9448:Fam149a UTSW 8 45,792,411 (GRCm39) critical splice acceptor site probably null
R9704:Fam149a UTSW 8 45,795,502 (GRCm39) missense probably benign 0.24
R9794:Fam149a UTSW 8 45,834,449 (GRCm39) missense possibly damaging 0.47
Z1176:Fam149a UTSW 8 45,795,495 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TCCGTAGACAATCCCGTGGTAGAG -3'
(R):5'- CCCTGAAGAGAGGGGCATTACAAAC -3'

Sequencing Primer
(F):5'- CTCCCACTGGATGAAAATGATG -3'
(R):5'- GGGGCATTACAAACCAATGTG -3'
Posted On 2014-03-14