Incidental Mutation 'R5249:Myt1l'
ID 398858
Institutional Source Beutler Lab
Gene Symbol Myt1l
Ensembl Gene ENSMUSG00000061911
Gene Name myelin transcription factor 1-like
Synonyms 2900093J19Rik, Png-1, 2900046C06Rik, C630034G21Rik, Nztf1, Pmng1
MMRRC Submission 042820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5249 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 29578383-29973212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29882331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 509 (G509R)
Ref Sequence ENSEMBL: ENSMUSP00000151588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021009] [ENSMUST00000049784] [ENSMUST00000218583]
AlphaFold P97500
Predicted Effect unknown
Transcript: ENSMUST00000021009
AA Change: G509R
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: G509R

DomainStartEndE-ValueType
Pfam:zf-C2HC 28 58 8.3e-19 PFAM
coiled coil region 148 182 N/A INTRINSIC
low complexity region 188 200 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
Pfam:zf-C2HC 502 532 1.1e-16 PFAM
Pfam:zf-C2HC 546 576 4e-18 PFAM
Pfam:MYT1 620 872 2.7e-135 PFAM
Pfam:zf-C2HC 901 931 8.4e-20 PFAM
Pfam:zf-C2HC 950 980 1.2e-18 PFAM
Pfam:zf-C2HC 1003 1033 1.1e-17 PFAM
coiled coil region 1055 1130 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000049784
AA Change: G511R
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: G511R

DomainStartEndE-ValueType
Pfam:zf-C2HC 30 58 5.1e-18 PFAM
coiled coil region 148 182 N/A INTRINSIC
low complexity region 188 200 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
Pfam:zf-C2HC 506 533 9.9e-15 PFAM
Pfam:zf-C2HC 550 578 2.4e-16 PFAM
Pfam:MYT1 622 873 2.7e-122 PFAM
Pfam:zf-C2HC 905 933 6.3e-19 PFAM
Pfam:zf-C2HC 954 982 1.6e-18 PFAM
Pfam:zf-C2HC 1007 1035 1.4e-16 PFAM
coiled coil region 1057 1132 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000218583
AA Change: G509R
Meta Mutation Damage Score 0.6392 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,284 (GRCm39) H148R probably damaging Het
Acrbp A G 6: 125,037,885 (GRCm39) D394G probably damaging Het
Adam18 T C 8: 25,115,868 (GRCm39) T609A probably benign Het
Adam25 T A 8: 41,208,991 (GRCm39) N752K probably benign Het
Ano6 A C 15: 95,811,469 (GRCm39) S176R probably benign Het
Ano7 T C 1: 93,302,918 (GRCm39) S19P probably benign Het
Ap1b1 A G 11: 4,976,364 (GRCm39) E437G probably damaging Het
Arfgap2 T A 2: 91,095,982 (GRCm39) C46* probably null Het
Arhgef26 T A 3: 62,247,981 (GRCm39) L355Q probably damaging Het
B4galnt4 C T 7: 140,644,983 (GRCm39) T219I probably damaging Het
Bap1 C T 14: 30,979,243 (GRCm39) probably benign Het
Catip T G 1: 74,401,954 (GRCm39) L43R probably damaging Het
Ccdc177 G A 12: 80,805,282 (GRCm39) R331C unknown Het
Cep85l T C 10: 53,195,690 (GRCm39) probably null Het
Cfap206 T A 4: 34,714,502 (GRCm39) Q398L probably benign Het
Clec18a A G 8: 111,800,368 (GRCm39) C352R probably damaging Het
Clic6 A T 16: 92,336,339 (GRCm39) Y549F probably damaging Het
Cpne9 C T 6: 113,270,034 (GRCm39) probably benign Het
Cyb5r3 A C 15: 83,042,836 (GRCm39) probably benign Het
Dnah6 C T 6: 73,090,471 (GRCm39) R2293K probably damaging Het
Dnmbp C A 19: 43,890,879 (GRCm39) R296L probably damaging Het
Dtwd1 C A 2: 125,996,694 (GRCm39) Q60K probably benign Het
Esyt1 C A 10: 128,352,443 (GRCm39) V723L probably benign Het
Fbxo42 T C 4: 140,926,335 (GRCm39) L339P probably damaging Het
Furin A T 7: 80,043,169 (GRCm39) N347K probably damaging Het
Fzd7 T C 1: 59,522,522 (GRCm39) M135T probably damaging Het
Garin1b A G 6: 29,323,896 (GRCm39) D207G probably damaging Het
Hlf A G 11: 90,278,632 (GRCm39) M144T probably benign Het
Hyal5 C T 6: 24,876,648 (GRCm39) Q174* probably null Het
Kcnb1 T A 2: 166,947,103 (GRCm39) M582L possibly damaging Het
Kdm5d T C Y: 916,692 (GRCm39) Y391H probably damaging Het
Khdc4 T A 3: 88,604,032 (GRCm39) I283N probably damaging Het
Kif21b C T 1: 136,096,966 (GRCm39) T1297M probably damaging Het
Krt8 T G 15: 101,906,875 (GRCm39) N317T possibly damaging Het
Lctl G T 9: 64,045,196 (GRCm39) V372L probably benign Het
Lig1 C T 7: 13,042,432 (GRCm39) H822Y possibly damaging Het
Lrrc4b A G 7: 44,111,988 (GRCm39) D620G possibly damaging Het
Mboat4 C T 8: 34,582,275 (GRCm39) H10Y probably benign Het
Med1 A T 11: 98,048,066 (GRCm39) M910K probably benign Het
Mia2 A T 12: 59,154,911 (GRCm39) D209V probably damaging Het
Mpp4 C T 1: 59,184,017 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,225 (GRCm39) V229E possibly damaging Het
Mtor T A 4: 148,548,189 (GRCm39) C485S probably damaging Het
Mx1 T C 16: 97,258,628 (GRCm39) D23G probably damaging Het
Myrfl T C 10: 116,619,138 (GRCm39) D740G probably benign Het
Nav2 G A 7: 49,185,661 (GRCm39) V874I probably damaging Het
Ntrk3 A T 7: 78,110,914 (GRCm39) N262K possibly damaging Het
Opa1 A T 16: 29,437,077 (GRCm39) D699V probably damaging Het
Or10u4 C T 10: 129,802,078 (GRCm39) A164T probably benign Het
Or8b51 A G 9: 38,569,374 (GRCm39) C105R possibly damaging Het
Otud7a A G 7: 63,407,181 (GRCm39) N495D possibly damaging Het
Pcsk9 T C 4: 106,320,950 (GRCm39) D53G probably benign Het
Pdcd5 A G 7: 35,346,421 (GRCm39) probably benign Het
Phf21a C T 2: 92,058,822 (GRCm39) P28L probably damaging Het
Pitpnm1 T A 19: 4,158,130 (GRCm39) D573E probably damaging Het
Ppp1r35 C T 5: 137,777,406 (GRCm39) probably benign Het
Ptprq T C 10: 107,535,496 (GRCm39) Q423R probably damaging Het
Pum1 A T 4: 130,490,125 (GRCm39) Y699F probably benign Het
Rabgef1 A G 5: 130,241,841 (GRCm39) D415G probably benign Het
Rapgef6 A G 11: 54,413,943 (GRCm39) E23G probably benign Het
Rpia G T 6: 70,760,563 (GRCm39) C121* probably null Het
Sanbr A G 11: 23,525,483 (GRCm39) *719Q probably null Het
Serpinb13 T A 1: 106,926,427 (GRCm39) W201R probably damaging Het
Sh3bp4 T C 1: 89,065,456 (GRCm39) C17R probably damaging Het
Sh3d21 A G 4: 126,055,858 (GRCm39) probably benign Het
Slamf6 A C 1: 171,764,249 (GRCm39) N214T probably damaging Het
Slc7a2 T C 8: 41,361,130 (GRCm39) Y365H possibly damaging Het
Sox18 T C 2: 181,312,971 (GRCm39) probably null Het
Spink7 A T 18: 62,725,507 (GRCm39) F79I possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Sspo A T 6: 48,470,244 (GRCm39) H4561L probably damaging Het
Tcaf1 T C 6: 42,653,793 (GRCm39) K700R probably benign Het
Tcf25 G T 8: 124,115,372 (GRCm39) R203L probably damaging Het
Tcp11 T C 17: 28,290,757 (GRCm39) I201V possibly damaging Het
Tex2 T C 11: 106,437,615 (GRCm39) D685G unknown Het
Themis G T 10: 28,637,195 (GRCm39) E100* probably null Het
Tmem52b G A 6: 129,491,221 (GRCm39) probably null Het
Tnr C T 1: 159,512,226 (GRCm39) probably benign Het
Tox3 T C 8: 90,975,444 (GRCm39) I396V probably benign Het
Tpm2 T A 4: 43,514,828 (GRCm39) E269V probably benign Het
Tulp1 C T 17: 28,581,651 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ube2j2 A C 4: 156,033,515 (GRCm39) K30Q possibly damaging Het
Usp19 T A 9: 108,369,807 (GRCm39) M1K probably null Het
Vmn2r52 C A 7: 9,910,197 (GRCm39) R6L probably benign Het
Zbed4 G A 15: 88,665,290 (GRCm39) V453M probably benign Het
Zfp319 T C 8: 96,055,099 (GRCm39) E368G probably benign Het
Zfp366 A C 13: 99,366,117 (GRCm39) E426A probably damaging Het
Zfp687 A T 3: 94,916,777 (GRCm39) I783N probably damaging Het
Other mutations in Myt1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Myt1l APN 12 29,877,423 (GRCm39) missense unknown
IGL00896:Myt1l APN 12 29,876,885 (GRCm39) missense unknown
IGL01653:Myt1l APN 12 29,960,770 (GRCm39) missense unknown
IGL02632:Myt1l APN 12 29,964,292 (GRCm39) missense unknown
IGL03088:Myt1l APN 12 29,970,476 (GRCm39) missense probably benign 0.03
IGL03212:Myt1l APN 12 29,877,819 (GRCm39) missense unknown
BB003:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
BB013:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
R0057:Myt1l UTSW 12 29,892,611 (GRCm39) splice site probably null
R0126:Myt1l UTSW 12 29,901,719 (GRCm39) missense possibly damaging 0.91
R0356:Myt1l UTSW 12 29,861,500 (GRCm39) missense unknown
R0538:Myt1l UTSW 12 29,892,570 (GRCm39) missense possibly damaging 0.47
R0587:Myt1l UTSW 12 29,861,634 (GRCm39) missense unknown
R0629:Myt1l UTSW 12 29,861,484 (GRCm39) missense unknown
R0709:Myt1l UTSW 12 29,877,732 (GRCm39) missense unknown
R0736:Myt1l UTSW 12 29,877,813 (GRCm39) missense unknown
R0920:Myt1l UTSW 12 29,936,138 (GRCm39) missense unknown
R1618:Myt1l UTSW 12 29,877,396 (GRCm39) missense unknown
R1660:Myt1l UTSW 12 29,945,272 (GRCm39) missense unknown
R1716:Myt1l UTSW 12 29,861,537 (GRCm39) missense unknown
R1758:Myt1l UTSW 12 29,877,241 (GRCm39) missense unknown
R1852:Myt1l UTSW 12 29,901,660 (GRCm39) missense probably benign 0.27
R1971:Myt1l UTSW 12 29,877,091 (GRCm39) missense unknown
R2120:Myt1l UTSW 12 29,833,618 (GRCm39) critical splice acceptor site probably null
R2227:Myt1l UTSW 12 29,876,969 (GRCm39) missense unknown
R2865:Myt1l UTSW 12 29,960,788 (GRCm39) missense probably benign 0.00
R4587:Myt1l UTSW 12 29,960,800 (GRCm39) missense unknown
R4603:Myt1l UTSW 12 29,892,539 (GRCm39) missense probably benign 0.01
R4659:Myt1l UTSW 12 29,899,456 (GRCm39) missense probably damaging 0.98
R4734:Myt1l UTSW 12 29,969,925 (GRCm39) missense possibly damaging 0.90
R4786:Myt1l UTSW 12 29,861,457 (GRCm39) missense unknown
R4824:Myt1l UTSW 12 29,899,399 (GRCm39) missense probably benign 0.02
R4835:Myt1l UTSW 12 29,945,304 (GRCm39) missense unknown
R4888:Myt1l UTSW 12 29,936,138 (GRCm39) missense unknown
R4976:Myt1l UTSW 12 29,882,302 (GRCm39) missense unknown
R4980:Myt1l UTSW 12 29,877,038 (GRCm39) missense unknown
R5119:Myt1l UTSW 12 29,882,302 (GRCm39) missense unknown
R5194:Myt1l UTSW 12 29,861,647 (GRCm39) missense unknown
R5247:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5427:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5428:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5429:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5431:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5628:Myt1l UTSW 12 29,861,620 (GRCm39) missense unknown
R5926:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5959:Myt1l UTSW 12 29,970,039 (GRCm39) critical splice donor site probably null
R6082:Myt1l UTSW 12 29,892,518 (GRCm39) missense probably damaging 1.00
R6082:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6084:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6086:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6145:Myt1l UTSW 12 29,882,380 (GRCm39) missense unknown
R6293:Myt1l UTSW 12 29,877,627 (GRCm39) missense unknown
R6315:Myt1l UTSW 12 29,877,797 (GRCm39) missense unknown
R6458:Myt1l UTSW 12 29,945,298 (GRCm39) missense unknown
R6490:Myt1l UTSW 12 29,882,365 (GRCm39) missense unknown
R6758:Myt1l UTSW 12 29,892,599 (GRCm39) missense possibly damaging 0.94
R7230:Myt1l UTSW 12 29,833,873 (GRCm39) missense probably damaging 0.99
R7330:Myt1l UTSW 12 29,901,553 (GRCm39) missense unknown
R7545:Myt1l UTSW 12 29,877,087 (GRCm39) missense unknown
R7662:Myt1l UTSW 12 29,876,868 (GRCm39) missense unknown
R7744:Myt1l UTSW 12 29,877,548 (GRCm39) missense unknown
R7926:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
R8832:Myt1l UTSW 12 29,970,351 (GRCm39) missense unknown
R8903:Myt1l UTSW 12 29,861,468 (GRCm39) missense unknown
R8923:Myt1l UTSW 12 29,960,800 (GRCm39) missense unknown
R8935:Myt1l UTSW 12 29,877,243 (GRCm39) missense unknown
R8944:Myt1l UTSW 12 29,861,564 (GRCm39) missense unknown
R9000:Myt1l UTSW 12 29,901,740 (GRCm39) missense unknown
R9329:Myt1l UTSW 12 29,901,659 (GRCm39) missense unknown
R9523:Myt1l UTSW 12 29,877,611 (GRCm39) missense unknown
R9599:Myt1l UTSW 12 29,943,441 (GRCm39) missense unknown
U24488:Myt1l UTSW 12 29,876,895 (GRCm39) missense unknown
Z1177:Myt1l UTSW 12 29,892,467 (GRCm39) missense unknown
Z1177:Myt1l UTSW 12 29,861,430 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTTATCATGTAACACACGGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'

Sequencing Primer
(F):5'- GCAAAAGCCTGCTGTCCCAG -3'
(R):5'- TTGGGGAAGGGATGATTGAC -3'
Posted On 2016-07-06