Incidental Mutation 'R4603:Myt1l'
ID 345809
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4603 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 29578383-29973212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29892539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 59 (T59A)
Ref Sequence ENSEMBL: ENSMUSP00000151919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021009] [ENSMUST00000049784] [ENSMUST00000218198] [ENSMUST00000218583]
AlphaFold P97500
Predicted Effect unknown
Transcript: ENSMUST00000021009
AA Change: T654A
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: T654A

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: T656A
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: T656A

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 probably benign
Transcript: ENSMUST00000218198
AA Change: T59A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect unknown
Transcript: ENSMUST00000218583
AA Change: T654A
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik A G 2: 127,029,019 (GRCm39) V60A probably damaging Het
AAdacl4fm3 A G 4: 144,429,798 (GRCm39) V397A probably benign Het
Afg3l1 A G 8: 124,228,674 (GRCm39) T747A probably benign Het
Aldh4a1 T C 4: 139,370,740 (GRCm39) S408P probably damaging Het
Ank2 T C 3: 126,825,665 (GRCm39) T445A probably benign Het
Antxrl A G 14: 33,797,792 (GRCm39) E589G possibly damaging Het
Arhgef12 C T 9: 42,921,489 (GRCm39) G329R probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Bpnt2 T C 4: 4,767,878 (GRCm39) I299M probably damaging Het
Brca2 T A 5: 150,459,630 (GRCm39) C302S possibly damaging Het
Ccdc169 T A 3: 55,058,226 (GRCm39) M4K probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cdc73 T C 1: 143,553,595 (GRCm39) probably null Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Cse1l T C 2: 166,786,452 (GRCm39) V604A probably benign Het
Cxcr1 G C 1: 74,231,896 (GRCm39) T42S probably benign Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Erp27 A G 6: 136,896,947 (GRCm39) V85A probably damaging Het
Fam3d T A 14: 8,358,429 (GRCm38) S57C probably damaging Het
Fgf8 T G 19: 45,726,592 (GRCm39) I137L probably benign Het
Fgfrl1 T A 5: 108,851,401 (GRCm39) V106D probably damaging Het
Gaa T C 11: 119,169,784 (GRCm39) W613R probably damaging Het
Gabarap A G 11: 69,885,287 (GRCm39) N66S probably benign Het
Gp1bb A T 16: 18,439,893 (GRCm39) L67Q probably damaging Het
Gpn1 T C 5: 31,654,696 (GRCm39) probably null Het
Gstt1 T C 10: 75,629,969 (GRCm39) Y48C probably damaging Het
Iqcg C T 16: 32,861,134 (GRCm39) R194K probably null Het
Iqcg C G 16: 32,861,133 (GRCm39) probably null Het
Kcnj3 C T 2: 55,336,991 (GRCm39) R286* probably null Het
Klhl38 T A 15: 58,186,616 (GRCm39) I38F possibly damaging Het
Kmo C A 1: 175,479,208 (GRCm39) P248Q probably benign Het
Mbtps1 A T 8: 120,262,086 (GRCm39) D354E probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Mprip T C 11: 59,622,399 (GRCm39) V162A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myocd T C 11: 65,078,571 (GRCm39) D408G possibly damaging Het
Ndufb7 A G 8: 84,293,494 (GRCm39) E16G probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nploc4 C T 11: 120,276,613 (GRCm39) V478I probably benign Het
Nrap A G 19: 56,323,456 (GRCm39) probably null Het
Or5e1 A T 7: 108,354,834 (GRCm39) Y257F probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pdss2 T C 10: 43,248,197 (GRCm39) S234P probably damaging Het
Pias2 T A 18: 77,217,803 (GRCm39) V335E probably damaging Het
Ppip5k2 C A 1: 97,682,861 (GRCm39) K187N probably damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Ppp4r1 T G 17: 66,120,459 (GRCm39) C181G probably damaging Het
Pramel27 T A 4: 143,579,451 (GRCm39) H345Q probably benign Het
Prkdc G A 16: 15,628,688 (GRCm39) E3478K probably damaging Het
Prpf4b T C 13: 35,072,147 (GRCm39) probably benign Het
Psme3 T A 11: 101,208,435 (GRCm39) probably null Het
Ptpre C A 7: 135,269,372 (GRCm39) Y284* probably null Het
Scnn1a A G 6: 125,299,123 (GRCm39) I94V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Shc2 T C 10: 79,459,690 (GRCm39) D418G probably benign Het
Sidt1 A T 16: 44,075,389 (GRCm39) D661E probably damaging Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Sorcs1 A G 19: 50,301,402 (GRCm39) probably null Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Tmem270 C A 5: 134,930,482 (GRCm39) E260* probably null Het
Tmtc2 T C 10: 105,249,391 (GRCm39) Y114C probably benign Het
Trim46 A G 3: 89,150,958 (GRCm39) F188S probably benign Het
Trim7 T A 11: 48,728,355 (GRCm39) M1K probably null Het
Txnip A G 3: 96,465,604 (GRCm39) E18G probably benign Het
Usp34 A G 11: 23,414,633 (GRCm39) N2859D probably damaging Het
Vmn2r94 T A 17: 18,477,647 (GRCm39) I255F probably benign Het
Xkr5 T A 8: 18,983,733 (GRCm39) N603I possibly damaging Het
Zfp512 C T 5: 31,637,570 (GRCm39) A497V probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S 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
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
R5249: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'- TGTGTACTGGGATAAACATGCG -3'
(R):5'- CACTGGGTGAGCACGAATAGTG -3'

Sequencing Primer
(F):5'- GATAAACATGCGTCACGTTGC -3'
(R):5'- CACGAATAGTGGCTGATCTGC -3'
Posted On 2015-09-25