Incidental Mutation 'R9743:Fam149b'
ID 731940
Institutional Source Beutler Lab
Gene Symbol Fam149b
Ensembl Gene ENSMUSG00000039599
Gene Name family with sequence similarity 149, member B
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R9743 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20398230-20433559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20413411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 264 (H264R)
Ref Sequence ENSEMBL: ENSMUSP00000087985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037698] [ENSMUST00000051915] [ENSMUST00000090499] [ENSMUST00000090503] [ENSMUST00000224721] [ENSMUST00000224930] [ENSMUST00000225597] [ENSMUST00000225834] [ENSMUST00000225942] [ENSMUST00000225991]
AlphaFold Q6NSV7
Predicted Effect probably benign
Transcript: ENSMUST00000037698
AA Change: H171R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045247
Gene: ENSMUSG00000039599
AA Change: H171R

DomainStartEndE-ValueType
Pfam:DUF3719 116 183 2.1e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000051915
AA Change: H210R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056907
Gene: ENSMUSG00000039599
AA Change: H210R

DomainStartEndE-ValueType
Pfam:DUF3719 116 183 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090499
AA Change: H264R

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087985
Gene: ENSMUSG00000039599
AA Change: H264R

DomainStartEndE-ValueType
Pfam:DUF3719 116 181 1.5e-28 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090503
AA Change: H171R

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087989
Gene: ENSMUSG00000039599
AA Change: H171R

DomainStartEndE-ValueType
Pfam:DUF3719 116 157 5.7e-14 PFAM
low complexity region 276 290 N/A INTRINSIC
low complexity region 311 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224721
AA Change: H264R

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224930
AA Change: H210R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225597
Predicted Effect probably benign
Transcript: ENSMUST00000225834
Predicted Effect possibly damaging
Transcript: ENSMUST00000225942
AA Change: H264R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225991
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,687,716 (GRCm39) H571R probably benign Het
Adamts13 T C 2: 26,886,812 (GRCm39) V983A probably benign Het
Adamts13 G A 2: 26,895,491 (GRCm39) probably null Het
AI661453 T A 17: 47,780,240 (GRCm39) N1181K unknown Het
Ank2 A T 3: 126,733,794 (GRCm39) N605K possibly damaging Het
Armc2 T G 10: 41,798,598 (GRCm39) K737T probably benign Het
Aspn A G 13: 49,705,150 (GRCm39) Y4C probably benign Het
B3galt2 T C 1: 143,522,847 (GRCm39) F328L probably benign Het
Brd10 A C 19: 29,694,261 (GRCm39) I1744S probably benign Het
Ccl3 T C 11: 83,539,428 (GRCm39) E52G probably damaging Het
Col5a1 C T 2: 27,864,505 (GRCm39) A728V unknown Het
Cyp1b1 T A 17: 80,017,808 (GRCm39) D449V probably benign Het
D130043K22Rik C T 13: 25,056,299 (GRCm39) P544S probably damaging Het
Dgkd T A 1: 87,861,850 (GRCm39) W28R Het
Emilin2 T C 17: 71,580,867 (GRCm39) T620A probably benign Het
Ercc6 T G 14: 32,298,943 (GRCm39) S1444A probably benign Het
Fbxo7 T C 10: 85,883,773 (GRCm39) V458A probably benign Het
Gria4 T G 9: 4,464,457 (GRCm39) T502P probably damaging Het
Hfm1 T C 5: 107,022,125 (GRCm39) T974A possibly damaging Het
Ifna16 T C 4: 88,594,930 (GRCm39) D55G probably damaging Het
Lyst T C 13: 13,809,323 (GRCm39) V331A possibly damaging Het
Mkks T C 2: 136,722,992 (GRCm39) Y55C probably benign Het
Muc4 T C 16: 32,601,194 (GRCm39) F1291L Het
Myo18a A G 11: 77,723,304 (GRCm39) N1183S probably benign Het
Olfm2 T C 9: 20,579,785 (GRCm39) D322G probably damaging Het
Or2a25 G A 6: 42,888,835 (GRCm39) C126Y probably damaging Het
Or2a51 A G 6: 43,179,229 (GRCm39) Y217C probably benign Het
Or5aq7 A G 2: 86,937,840 (GRCm39) V297A probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Pdik1l A T 4: 134,011,815 (GRCm39) D9E probably benign Het
Pdzrn3 C A 6: 101,354,678 (GRCm39) G58C probably damaging Het
Pex13 A T 11: 23,606,119 (GRCm39) L37* probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Ptprq T A 10: 107,520,982 (GRCm39) Y730F probably damaging Het
Rnase11 T A 14: 51,287,370 (GRCm39) K61N probably benign Het
Setdb2 T C 14: 59,651,002 (GRCm39) D427G probably benign Het
Slc22a21 A G 11: 53,842,575 (GRCm39) V518A probably benign Het
Slf2 T C 19: 44,930,572 (GRCm39) S550P probably benign Het
Supt16 T C 14: 52,408,939 (GRCm39) R812G probably damaging Het
Taf4 C T 2: 179,581,592 (GRCm39) V464M possibly damaging Het
Tas1r3 G A 4: 155,945,256 (GRCm39) T655I probably damaging Het
Tg G A 15: 66,561,839 (GRCm39) V1108I probably benign Het
Tmc7 C A 7: 118,150,452 (GRCm39) R360S probably damaging Het
Tor3a T C 1: 156,501,103 (GRCm39) T112A probably benign Het
Tsr3 T C 17: 25,460,674 (GRCm39) L180P possibly damaging Het
Unc5d T C 8: 29,209,801 (GRCm39) T512A possibly damaging Het
Vmn2r103 T A 17: 20,032,475 (GRCm39) Y750N probably damaging Het
Vmn2r20 A T 6: 123,373,369 (GRCm39) V491D probably damaging Het
Vmn2r52 T C 7: 9,904,606 (GRCm39) E411G possibly damaging Het
Zfp760 T A 17: 21,942,338 (GRCm39) S504R probably benign Het
Other mutations in Fam149b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Fam149b APN 14 20,427,949 (GRCm39) missense possibly damaging 0.78
IGL02323:Fam149b APN 14 20,413,369 (GRCm39) missense possibly damaging 0.94
IGL02631:Fam149b APN 14 20,425,614 (GRCm39) missense probably damaging 0.97
IGL03208:Fam149b APN 14 20,401,370 (GRCm39) splice site probably benign
R0334:Fam149b UTSW 14 20,413,492 (GRCm39) missense probably damaging 0.97
R2511:Fam149b UTSW 14 20,428,524 (GRCm39) missense probably damaging 1.00
R2566:Fam149b UTSW 14 20,425,578 (GRCm39) missense probably damaging 0.97
R4659:Fam149b UTSW 14 20,417,941 (GRCm39) missense probably benign 0.16
R5011:Fam149b UTSW 14 20,413,439 (GRCm39) missense possibly damaging 0.92
R5013:Fam149b UTSW 14 20,413,439 (GRCm39) missense possibly damaging 0.92
R5583:Fam149b UTSW 14 20,413,368 (GRCm39) missense possibly damaging 0.66
R5791:Fam149b UTSW 14 20,401,394 (GRCm39) missense probably damaging 0.96
R5905:Fam149b UTSW 14 20,409,978 (GRCm39) missense probably benign 0.30
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R7180:Fam149b UTSW 14 20,431,853 (GRCm39) missense probably benign 0.01
R7210:Fam149b UTSW 14 20,428,540 (GRCm39) missense probably damaging 0.99
R7976:Fam149b UTSW 14 20,427,852 (GRCm39) missense probably damaging 0.98
R8529:Fam149b UTSW 14 20,408,370 (GRCm39) splice site probably null
R8971:Fam149b UTSW 14 20,402,777 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ACCAAGCACATTTCCGAGTG -3'
(R):5'- TAAAGCATTTAAGCCCTGACGTCTTAG -3'

Sequencing Primer
(F):5'- AGCACATTTCCGAGTGTCACG -3'
(R):5'- TTTGCCTAGTACACACAGGG -3'
Posted On 2022-11-14