Incidental Mutation 'R8944:Myt1l'
ID 681187
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 068783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8944 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 29578383-29973212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29861564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 115 (D115E)
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: D115E
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: D115E

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: D115E
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: D115E

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: D115E
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (88/88)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,049,851 (GRCm39) probably benign Het
A830018L16Rik A T 1: 11,484,706 (GRCm39) probably benign Het
Acox1 C T 11: 116,066,040 (GRCm39) R454H probably damaging Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Ankrd12 A C 17: 66,277,195 (GRCm39) Y2026* probably null Het
Atad5 C T 11: 79,986,524 (GRCm39) T537M possibly damaging Het
Atosa A G 9: 74,911,562 (GRCm39) Y11C probably damaging Het
Avil G T 10: 126,846,455 (GRCm39) G420V probably damaging Het
Bche A T 3: 73,608,008 (GRCm39) F473I probably damaging Het
Borcs5 T C 6: 134,621,437 (GRCm39) probably null Het
C4b T C 17: 34,961,913 (GRCm39) Q111R probably benign Het
Carmil2 T A 8: 106,417,437 (GRCm39) I565N probably damaging Het
Cd74 T C 18: 60,943,127 (GRCm39) M155T probably damaging Het
Chrnd G T 1: 87,119,997 (GRCm39) R105L probably damaging Het
Clpp G T 17: 57,300,553 (GRCm39) E217* probably null Het
Cpq T A 15: 33,594,269 (GRCm39) Y427N probably damaging Het
Crxos G A 7: 15,636,900 (GRCm39) E54K possibly damaging Het
Dcaf13 A G 15: 39,001,612 (GRCm39) R307G possibly damaging Het
Ddx55 A G 5: 124,706,788 (GRCm39) D595G probably damaging Het
Dld T A 12: 31,390,868 (GRCm39) I193F possibly damaging Het
Dnah11 T G 12: 118,091,381 (GRCm39) E917A possibly damaging Het
Dnai2 T A 11: 114,641,302 (GRCm39) Y376N possibly damaging Het
Dock7 A G 4: 98,829,243 (GRCm39) Y2078H probably damaging Het
Dusp4 A T 8: 35,274,941 (GRCm39) N20I probably benign Het
Dzank1 A G 2: 144,333,729 (GRCm39) L367P probably benign Het
Eea1 T A 10: 95,832,822 (GRCm39) D222E probably damaging Het
Erich3 G C 3: 154,462,692 (GRCm39) R742S Het
Erich6 C T 3: 58,537,275 (GRCm39) M246I probably benign Het
Galnt16 T G 12: 80,623,314 (GRCm39) I158S probably damaging Het
Gm28363 A G 1: 117,655,080 (GRCm39) T100A possibly damaging Het
Gm8257 A T 14: 44,893,849 (GRCm39) Y36N probably damaging Het
Gmpr2 T C 14: 55,913,149 (GRCm39) V142A possibly damaging Het
Grid2ip T C 5: 143,366,260 (GRCm39) probably null Het
Hamp2 A G 7: 30,622,001 (GRCm39) F63L possibly damaging Het
Hmga2 T C 10: 120,309,159 (GRCm39) K66E probably damaging Het
Hspa1a T C 17: 35,190,019 (GRCm39) T295A probably benign Het
Ift74 G A 4: 94,510,128 (GRCm39) G53D probably damaging Het
Ighv6-7 T C 12: 114,419,703 (GRCm39) M1V probably null Het
Ints4 T A 7: 97,183,593 (GRCm39) D769E probably benign Het
Kif7 G A 7: 79,360,005 (GRCm39) R411C probably damaging Het
Klhl30 T A 1: 91,287,174 (GRCm39) Y487N probably damaging Het
Kras T C 6: 145,170,853 (GRCm39) E174G probably benign Het
Krt84 T C 15: 101,437,183 (GRCm39) I327V probably benign Het
Lamb3 T A 1: 193,014,525 (GRCm39) C561* probably null Het
Lmbrd1 A G 1: 24,767,407 (GRCm39) probably benign Het
Lmnb1 T A 18: 56,876,331 (GRCm39) S480T probably benign Het
Lrp2 C T 2: 69,341,348 (GRCm39) G944D probably damaging Het
Mta3 G A 17: 84,083,146 (GRCm39) E280K probably damaging Het
Muc5b A T 7: 141,421,115 (GRCm39) I4236F Het
Myh9 T C 15: 77,655,432 (GRCm39) T1175A probably benign Het
Naa25 A G 5: 121,552,573 (GRCm39) N167D probably benign Het
Ncam1 G A 9: 49,431,493 (GRCm39) P648L probably damaging Het
Or2t26 T C 11: 49,039,266 (GRCm39) Y61H probably damaging Het
Or2t44 A T 11: 58,677,519 (GRCm39) D153V probably damaging Het
P3h3 G T 6: 124,832,196 (GRCm39) A230E possibly damaging Het
Pacs2 A G 12: 113,020,476 (GRCm39) E253G probably damaging Het
Pbld1 A T 10: 62,901,648 (GRCm39) D57V probably benign Het
Pcsk5 T C 19: 17,452,275 (GRCm39) T1077A probably damaging Het
Pou4f2 T A 8: 79,161,932 (GRCm39) M224L Het
Ppcdc C T 9: 57,342,265 (GRCm39) R19H probably benign Het
Ppp1r10 T A 17: 36,241,018 (GRCm39) M640K probably benign Het
Prdx6 A T 1: 161,069,432 (GRCm39) probably benign Het
Rab40b A G 11: 121,250,384 (GRCm39) probably null Het
Rassf9 T A 10: 102,381,329 (GRCm39) M237K probably benign Het
Rbbp8nl G T 2: 179,919,769 (GRCm39) Y604* probably null Het
Reep2 G T 18: 34,975,929 (GRCm39) W42L possibly damaging Het
Serpinb6e A T 13: 34,017,261 (GRCm39) M253K probably damaging Het
Shank2 A G 7: 143,623,927 (GRCm39) Q304R probably damaging Het
Slk T C 19: 47,600,057 (GRCm39) M120T probably damaging Het
Spata31e5 T C 1: 28,816,155 (GRCm39) I626V probably benign Het
Sphkap T A 1: 83,256,927 (GRCm39) H274L probably benign Het
Stc1 T G 14: 69,269,884 (GRCm39) F155V possibly damaging Het
Tbc1d12 A G 19: 38,899,510 (GRCm39) T477A probably damaging Het
Tmem19 T A 10: 115,183,671 (GRCm39) I54F possibly damaging Het
Tmem62 G A 2: 120,817,316 (GRCm39) probably null Het
Ttc6 A T 12: 57,689,826 (GRCm39) R505S Het
Ttn G T 2: 76,623,184 (GRCm39) R15418S probably damaging Het
Ugt2a3 C A 5: 87,473,417 (GRCm39) C500F possibly damaging Het
Ugt2b35 T C 5: 87,149,310 (GRCm39) F187S probably benign Het
Ung T A 5: 114,269,456 (GRCm39) I56N probably damaging Het
Vmn1r17 G T 6: 57,338,142 (GRCm39) F25L probably benign Het
Vmn1r29 C A 6: 58,284,274 (GRCm39) probably benign Het
Vps26c T A 16: 94,302,481 (GRCm39) I242F probably benign Het
Wdhd1 T C 14: 47,504,470 (GRCm39) D368G probably benign Het
Wdr3 A T 3: 100,057,259 (GRCm39) I448N probably damaging Het
Wdr47 T A 3: 108,550,480 (GRCm39) M835K possibly damaging Het
Wt1 G A 2: 104,957,584 (GRCm39) G10D possibly damaging Het
Zdhhc19 G A 16: 32,316,500 (GRCm39) G85D 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
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
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'- GCTCTGATATCCAGGCAGTAAC -3'
(R):5'- CATGGCCTAAGCTTTGGGAG -3'

Sequencing Primer
(F):5'- TCCAGGCAGTAACATAAATATTTCTC -3'
(R):5'- GCCTAAGCTTTGGGAGTATTTAAAG -3'
Posted On 2021-08-31