Incidental Mutation 'RF041:AI837181'
ID 604846
Institutional Source Beutler Lab
Gene Symbol AI837181
Ensembl Gene ENSMUSG00000047423
Gene Name expressed sequence AI837181
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF041 (G1)
Quality Score 123.467
Status Not validated
Chromosome 19
Chromosomal Location 5475172-5477341 bp(+) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) GGC to GGCTGC at 5475257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025853] [ENSMUST00000113673] [ENSMUST00000113674] [ENSMUST00000136579] [ENSMUST00000148219] [ENSMUST00000159759]
AlphaFold Q8VD62
Predicted Effect probably benign
Transcript: ENSMUST00000025853
SMART Domains Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:Histone 4 76 2.1e-8 PFAM
Pfam:CBFD_NFYB_HMF 10 74 1e-20 PFAM
low complexity region 103 123 N/A INTRINSIC
low complexity region 134 155 N/A INTRINSIC
low complexity region 172 194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113673
SMART Domains Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 1 54 6.7e-14 PFAM
Pfam:Histone 1 56 1.8e-6 PFAM
low complexity region 83 103 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113674
SMART Domains Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 10 74 5e-22 PFAM
low complexity region 114 130 N/A INTRINSIC
low complexity region 141 162 N/A INTRINSIC
low complexity region 179 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136579
SMART Domains Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 1 54 8.7e-14 PFAM
Pfam:Histone 1 56 2.3e-6 PFAM
low complexity region 83 103 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
low complexity region 152 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148219
SMART Domains Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914

DomainStartEndE-ValueType
Pfam:Histone 4 76 9.4e-10 PFAM
Pfam:CBFD_NFYB_HMF 10 74 4.5e-22 PFAM
low complexity region 103 123 N/A INTRINSIC
low complexity region 134 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159759
SMART Domains Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
low complexity region 44 64 N/A INTRINSIC
low complexity region 69 82 N/A INTRINSIC
Pfam:DUF1917 139 259 6.1e-19 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik TGAGGA TGA 12: 72,928,050 (GRCm39) probably benign Het
5430401F13Rik CCAGCAAAAACAGAAAGGAAAAGG CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG 6: 131,529,836 (GRCm39) probably benign Het
5430401F13Rik AGGTGGCCAG AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,857 (GRCm39) probably benign Het
5430401F13Rik AAAGGTGGC AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC 6: 131,529,855 (GRCm39) probably benign Het
Abcf1 CTCTTC CTC 17: 36,274,093 (GRCm39) probably benign Het
Acap3 GGCTGC GGCTGCGGCATCCTGTGCTGC 4: 155,989,557 (GRCm39) probably benign Het
Arid1b CGG CGGTGG 17: 5,045,870 (GRCm39) probably benign Het
AY761185 CACTGTGGG C 8: 21,433,928 (GRCm39) probably null Het
Btnl1 C T 17: 34,600,342 (GRCm39) T246M probably benign Het
Cdc40 C T 10: 40,719,119 (GRCm39) D337N probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cul9 CCT CCTACT 17: 46,811,780 (GRCm39) probably null Het
Defb22 GCTGGCCTTTGC GCTGGCCTTTGCCGCAGACCTGGCCTTTGC 2: 152,327,743 (GRCm39) probably benign Het
Dmkn GGGGTGGAAG GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG 7: 30,466,598 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Flywch1 GT GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT 17: 23,981,151 (GRCm39) probably null Het
Gabre CTCCGG CTCCGGATCCGG X: 71,313,655 (GRCm39) probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,122 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Il2 GG GGGCTTGAAGTGCG 3: 37,179,991 (GRCm39) probably benign Het
Iqcf4 CTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT 9: 106,447,812 (GRCm39) probably null Het
Kif12 GGC GGCCTCCACCCGGCGTGC 4: 63,089,662 (GRCm39) probably benign Het
Kmt2c TG TGTTGCAG 5: 25,520,773 (GRCm39) probably benign Het
Lce1m CTGCTGCTGCC CTGCTGCTGCCCTTGCTGCTGCC 3: 92,925,448 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,432 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,435 (GRCm39) probably benign Het
Med12l AGC AGCTGC 3: 59,183,406 (GRCm39) probably benign Het
Med12l GC GCACC 3: 59,183,416 (GRCm39) probably benign Het
Nefh CCTCACCTGGGG CCTCACCTGGGGCCTTGGGCTCACCTGGGG 11: 4,891,039 (GRCm39) probably benign Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Ngfr CAGG C 11: 95,478,337 (GRCm39) probably benign Het
Nusap1 GAGA GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA 2: 119,458,088 (GRCm39) probably null Het
Nusap1 GATACACGTTAGCAGTGAGGAGCAAGCTGA GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA 2: 119,458,060 (GRCm39) probably benign Het
Nusap1 GTGAGGAGCAAGCTGA GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA 2: 119,458,074 (GRCm39) probably benign Het
Phc1 TG TGCTGCGG 6: 122,300,559 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Setd1a GGTGGTGGT GGTGGTGGTCGTGGTGGT 7: 127,384,504 (GRCm39) probably benign Het
Sfr1 ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC 19: 47,721,307 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 AGC AGCCCCTGC 19: 26,608,421 (GRCm39) probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tcof1 AGATCCCCTTGGC AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC 18: 60,966,644 (GRCm39) probably benign Het
Tcof1 CCCCTTG CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG 18: 60,966,648 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,025 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Unc13b AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG 4: 43,177,338 (GRCm39) probably benign Het
Usp19 GTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGT 9: 108,371,187 (GRCm39) unknown Het
Other mutations in AI837181
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
FR4548:AI837181 UTSW 19 5,475,259 (GRCm39) small insertion probably benign
FR4976:AI837181 UTSW 19 5,475,257 (GRCm39) small insertion probably benign
R0357:AI837181 UTSW 19 5,476,731 (GRCm39) missense possibly damaging 0.49
R1944:AI837181 UTSW 19 5,476,257 (GRCm39) missense probably damaging 0.96
R4846:AI837181 UTSW 19 5,476,329 (GRCm39) missense probably benign 0.23
R7269:AI837181 UTSW 19 5,476,462 (GRCm39) missense probably damaging 1.00
R7561:AI837181 UTSW 19 5,476,491 (GRCm39) missense probably damaging 1.00
R7761:AI837181 UTSW 19 5,476,319 (GRCm39) missense probably benign 0.03
R9057:AI837181 UTSW 19 5,476,730 (GRCm39) missense probably damaging 0.98
RF002:AI837181 UTSW 19 5,475,263 (GRCm39) small insertion probably benign
RF002:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF008:AI837181 UTSW 19 5,475,266 (GRCm39) small insertion probably benign
RF009:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF011:AI837181 UTSW 19 5,475,264 (GRCm39) small insertion probably benign
RF012:AI837181 UTSW 19 5,475,255 (GRCm39) small insertion probably benign
RF013:AI837181 UTSW 19 5,475,260 (GRCm39) small insertion probably benign
RF021:AI837181 UTSW 19 5,475,262 (GRCm39) small insertion probably benign
RF025:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF026:AI837181 UTSW 19 5,475,252 (GRCm39) small insertion probably benign
RF030:AI837181 UTSW 19 5,475,263 (GRCm39) small insertion probably benign
RF030:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF031:AI837181 UTSW 19 5,475,246 (GRCm39) small insertion probably benign
RF033:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
RF033:AI837181 UTSW 19 5,475,252 (GRCm39) small insertion probably benign
RF035:AI837181 UTSW 19 5,475,266 (GRCm39) small insertion probably benign
RF038:AI837181 UTSW 19 5,475,264 (GRCm39) small insertion probably benign
RF038:AI837181 UTSW 19 5,475,254 (GRCm39) small insertion probably benign
RF042:AI837181 UTSW 19 5,475,265 (GRCm39) small insertion probably benign
RF042:AI837181 UTSW 19 5,475,245 (GRCm39) small insertion probably benign
RF045:AI837181 UTSW 19 5,475,246 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TAAAGTACGAACGTTAGCTCCG -3'
(R):5'- TCGAACCAGATAGGACCAGG -3'

Sequencing Primer
(F):5'- GAACGTTAGCTCCGCCTCC -3'
(R):5'- AGATAGGACCAGGCCTGC -3'
Posted On 2019-12-04