Incidental Mutation 'R0126:Myt1l'
ID 21398
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 038411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0126 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 29578383-29973212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29901719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 228 (T228A)
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: T823A
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: T823A

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: T825A
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: T825A

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 possibly damaging
Transcript: ENSMUST00000218198
AA Change: T228A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect unknown
Transcript: ENSMUST00000218583
AA Change: T823A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220072
Meta Mutation Damage Score 0.1803 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.2%
  • 20x: 81.8%
Validation Efficiency 98% (102/104)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,333,742 (GRCm39) L1730P possibly damaging Het
Adam9 T C 8: 25,460,753 (GRCm39) N577S probably damaging Het
Add1 T C 5: 34,770,923 (GRCm39) Y316H probably benign Het
Agpat3 T C 10: 78,113,890 (GRCm39) D266G probably null Het
Aldh3a2 C A 11: 61,115,384 (GRCm39) Q524H probably benign Het
Alox12b A C 11: 69,058,297 (GRCm39) S550R probably benign Het
Ano4 T A 10: 88,788,154 (GRCm39) I753F possibly damaging Het
AW011738 T A 4: 156,288,104 (GRCm39) probably benign Het
B4galt3 C T 1: 171,103,738 (GRCm39) T103M probably damaging Het
Cabs1 C T 5: 88,128,054 (GRCm39) T235I probably damaging Het
Casq2 A G 3: 102,040,715 (GRCm39) H272R probably damaging Het
Ccdc180 T C 4: 45,912,866 (GRCm39) probably null Het
Cdh12 A T 15: 21,584,031 (GRCm39) M624L probably benign Het
Cdh5 A C 8: 104,867,314 (GRCm39) probably null Het
Col7a1 A G 9: 108,798,651 (GRCm39) probably benign Het
Cpne2 A T 8: 95,281,561 (GRCm39) I199F probably damaging Het
Crebbp A T 16: 3,901,927 (GRCm39) F2399L possibly damaging Het
Defb36 T C 2: 152,454,499 (GRCm39) C53R probably damaging Het
Degs1 T C 1: 182,107,257 (GRCm39) M1V probably null Het
Disp2 T A 2: 118,620,819 (GRCm39) F517Y probably damaging Het
Dnah5 A G 15: 28,246,465 (GRCm39) D601G probably benign Het
Dnpep G A 1: 75,289,182 (GRCm39) Q310* probably null Het
Dsg1a A G 18: 20,473,935 (GRCm39) T1003A probably benign Het
Fbrsl1 C G 5: 110,543,906 (GRCm39) probably benign Het
Foxh1 A T 15: 76,553,454 (GRCm39) L116H probably damaging Het
Gigyf2 G A 1: 87,339,597 (GRCm39) probably benign Het
Golm2 T C 2: 121,736,565 (GRCm39) probably benign Het
Gp1ba A T 11: 70,531,859 (GRCm39) probably benign Het
Gucy1b1 A G 3: 81,945,218 (GRCm39) probably benign Het
Gucy2g T G 19: 55,229,598 (GRCm39) D24A probably benign Het
Hirip3 A G 7: 126,462,614 (GRCm39) K190R probably damaging Het
Hmmr T C 11: 40,596,781 (GRCm39) N717D probably damaging Het
Il12b A T 11: 44,301,045 (GRCm39) Y187F probably damaging Het
Iqgap1 A G 7: 80,388,070 (GRCm39) I859T probably benign Het
Jmjd1c T C 10: 67,055,105 (GRCm39) L175P probably damaging Het
Klc2 T C 19: 5,162,774 (GRCm39) M242V possibly damaging Het
Klf3 T C 5: 64,979,446 (GRCm39) M96T probably benign Het
Lrrc66 G T 5: 73,764,431 (GRCm39) H871N probably benign Het
Ltn1 A T 16: 87,222,528 (GRCm39) D168E probably benign Het
Mak T C 13: 41,186,072 (GRCm39) D532G probably damaging Het
Marchf6 A G 15: 31,462,151 (GRCm39) M859T probably benign Het
Meak7 T C 8: 120,489,089 (GRCm39) D398G possibly damaging Het
Mlxipl C A 5: 135,161,177 (GRCm39) N365K probably damaging Het
Mplkip T C 13: 17,870,337 (GRCm39) S90P possibly damaging Het
Myo5c A T 9: 75,176,807 (GRCm39) H584L probably benign Het
Nxpe3 A T 16: 55,686,592 (GRCm39) Y139N possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51f2 A G 7: 102,526,347 (GRCm39) T7A probably benign Het
Or8k40 T A 2: 86,584,981 (GRCm39) I34L probably damaging Het
Pak6 C T 2: 118,520,813 (GRCm39) S268F possibly damaging Het
Parp10 G A 15: 76,127,266 (GRCm39) A57V probably damaging Het
Pik3r3 T A 4: 116,113,465 (GRCm39) D69E probably damaging Het
Polr2a T G 11: 69,638,251 (GRCm39) K105T probably damaging Het
Prdm16 A T 4: 154,413,295 (GRCm39) probably benign Het
Prepl G A 17: 85,390,670 (GRCm39) T96I probably benign Het
Ret C T 6: 118,142,956 (GRCm39) probably benign Het
Rgl3 A T 9: 21,887,108 (GRCm39) D541E probably benign Het
Rpa1 A C 11: 75,209,355 (GRCm39) Y143D probably benign Het
Rps16 T A 7: 28,050,508 (GRCm39) L47Q probably damaging Het
Sbno2 A T 10: 79,904,687 (GRCm39) probably null Het
Scube1 A T 15: 83,505,264 (GRCm39) N385K probably damaging Het
Shank2 A G 7: 143,585,092 (GRCm39) E31G probably damaging Het
Slc38a9 G T 13: 112,865,791 (GRCm39) C496F possibly damaging Het
Snap47 A G 11: 59,328,813 (GRCm39) V163A probably damaging Het
Sntg2 T C 12: 30,251,260 (GRCm39) probably benign Het
Sp7 C A 15: 102,266,895 (GRCm39) V322F probably damaging Het
Spic T C 10: 88,511,924 (GRCm39) K111E probably damaging Het
Sqor T C 2: 122,639,947 (GRCm39) probably benign Het
St6galnac1 T A 11: 116,657,410 (GRCm39) M385L probably benign Het
Synpo2 A T 3: 122,873,511 (GRCm39) S1211T possibly damaging Het
Sytl2 T A 7: 90,045,797 (GRCm39) V638E probably damaging Het
Taar1 T A 10: 23,796,445 (GRCm39) S48T probably benign Het
Tbx18 T A 9: 87,611,706 (GRCm39) D108V possibly damaging Het
Tdh C T 14: 63,735,042 (GRCm39) probably benign Het
Tlr9 T A 9: 106,102,881 (GRCm39) L724Q probably benign Het
Tmem270 T A 5: 134,931,642 (GRCm39) Y100F probably benign Het
Trim65 G C 11: 116,015,430 (GRCm39) probably benign Het
Trrap A T 5: 144,742,560 (GRCm39) K1393* probably null Het
Ttc13 A G 8: 125,410,030 (GRCm39) V523A probably damaging Het
Utrn T A 10: 12,587,219 (GRCm39) D939V probably benign Het
Vmn1r46 G T 6: 89,953,935 (GRCm39) M261I probably benign Het
Vwa5a A G 9: 38,649,103 (GRCm39) probably null Het
Zfp108 A T 7: 23,960,149 (GRCm39) T247S probably benign Het
Zfp366 A T 13: 99,365,129 (GRCm39) I97F probably benign Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C probably benign 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
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
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'- AGGCCCTCTGGGTTAGACATCTTTC -3'
(R):5'- CTCTGAGTCCTTGTCAGCTAAGCATC -3'

Sequencing Primer
(F):5'- GGGTTAGACATCTTTCTTTCAACAG -3'
(R):5'- GTCAGCTAAGCATCAAATTTAGGAAG -3'
Posted On 2013-04-11