Incidental Mutation 'R0629:Myt1l'
ID 57774
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 038818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0629 (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 29861484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 89 (E89K)
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: E89K
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: E89K

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: E89K
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: E89K

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: E89K
Meta Mutation Damage Score 0.1080 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I 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
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
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'- TGTGTGAGAGAACAGTAGTGCCCTC -3'
(R):5'- AAGCATGGCCTAAGCTTTGGGAG -3'

Sequencing Primer
(F):5'- GCATGGTGACATTCATACTCAATCC -3'
(R):5'- tcttcttcctcttcctcttcttc -3'
Posted On 2013-07-11