Incidental Mutation 'R4649:Myt1'
ID 350561
Institutional Source Beutler Lab
Gene Symbol Myt1
Ensembl Gene ENSMUSG00000010505
Gene Name myelin transcription factor 1
Synonyms NZF-2b, NZF-2a, Nztf2, Nzf2
MMRRC Submission 041910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4649 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181405125-181469590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181439207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 243 (D243G)
Ref Sequence ENSEMBL: ENSMUSP00000104388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000183403]
AlphaFold Q8CFC2
Predicted Effect probably benign
Transcript: ENSMUST00000081125
AA Change: D285G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: D285G

DomainStartEndE-ValueType
Pfam:zf-C2HC 71 99 8.7e-16 PFAM
low complexity region 155 160 N/A INTRINSIC
low complexity region 185 201 N/A INTRINSIC
coiled coil region 300 354 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Pfam:zf-C2HC 485 512 2.9e-14 PFAM
Pfam:zf-C2HC 529 557 4.3e-16 PFAM
Pfam:MYT1 604 660 2e-28 PFAM
Pfam:MYT1 659 835 2.3e-56 PFAM
Pfam:zf-C2HC 843 871 2e-18 PFAM
Pfam:zf-C2HC 887 915 1.9e-18 PFAM
Pfam:zf-C2HC 936 964 2.1e-16 PFAM
Pfam:zf-C2HC 989 1017 8.4e-16 PFAM
coiled coil region 1037 1109 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108756
AA Change: D243G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: D243G

DomainStartEndE-ValueType
Pfam:zf-C2HC 27 57 5.1e-18 PFAM
low complexity region 113 118 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 258 312 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:zf-C2HC 441 471 5e-17 PFAM
Pfam:zf-C2HC 485 515 3.1e-18 PFAM
Pfam:MYT1 562 618 2.4e-32 PFAM
Pfam:MYT1 617 794 2e-74 PFAM
Pfam:zf-C2HC 799 829 1.9e-19 PFAM
Pfam:zf-C2HC 843 873 9.7e-20 PFAM
Pfam:zf-C2HC 892 922 2.2e-18 PFAM
Pfam:zf-C2HC 945 975 1.7e-16 PFAM
coiled coil region 995 1067 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108757
AA Change: D243G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: D243G

DomainStartEndE-ValueType
Pfam:zf-C2HC 27 57 1e-17 PFAM
low complexity region 113 118 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 258 312 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:zf-C2HC 441 471 1e-16 PFAM
Pfam:zf-C2HC 485 510 6.2e-12 PFAM
Pfam:MYT1 524 580 2.7e-32 PFAM
Pfam:MYT1 579 756 2.3e-74 PFAM
Pfam:zf-C2HC 761 791 3.8e-19 PFAM
Pfam:zf-C2HC 805 835 1.9e-19 PFAM
Pfam:zf-C2HC 854 884 4.3e-18 PFAM
Pfam:zf-C2HC 907 937 3.3e-16 PFAM
coiled coil region 957 1029 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129843
SMART Domains Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
Pfam:zf-C2HC 147 174 6.2e-15 PFAM
Pfam:zf-C2HC 191 219 9.2e-17 PFAM
Pfam:MYT1 266 322 7.3e-29 PFAM
Pfam:MYT1 321 497 7.2e-57 PFAM
Pfam:zf-C2HC 505 533 9.6e-19 PFAM
Pfam:zf-C2HC 554 582 4.4e-17 PFAM
Pfam:zf-C2HC 607 635 1.8e-16 PFAM
coiled coil region 654 726 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129856
SMART Domains Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505

DomainStartEndE-ValueType
Pfam:zf-C2HC 63 91 1.4e-16 PFAM
low complexity region 147 152 N/A INTRINSIC
Pfam:zf-C2HC 177 204 4.6e-15 PFAM
Pfam:zf-C2HC 221 249 6.7e-17 PFAM
Pfam:MYT1 296 352 5.2e-29 PFAM
Pfam:MYT1 351 527 4.5e-57 PFAM
Pfam:zf-C2HC 535 556 1.4e-13 PFAM
Pfam:zf-C2HC 556 584 3.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156190
Predicted Effect probably benign
Transcript: ENSMUST00000183403
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the myelin transcription factor 1 gene family. The encoded protein, a zinc finger DNA-binding protein, is involved in regulation of oligodendrocyte differentiation and proliferation in the developing central nervous system. The gene product has a role in remyelination through regeneration of oligodendrocyte lineage cells in response to demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,963,542 (GRCm39) V841F probably damaging Het
Adcy10 G A 1: 165,331,618 (GRCm39) E84K probably damaging Het
Adgrg6 C A 10: 14,344,571 (GRCm39) M127I probably damaging Het
Agpat5 A G 8: 18,929,668 (GRCm39) I266V possibly damaging Het
Agtpbp1 A T 13: 59,676,213 (GRCm39) Y186N possibly damaging Het
Alx1 A T 10: 102,845,193 (GRCm39) N279K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Arsi A G 18: 61,050,170 (GRCm39) Y351C probably damaging Het
B4galnt3 T A 6: 120,201,581 (GRCm39) R155W probably damaging Het
BC028528 T C 3: 95,795,577 (GRCm39) E75G probably damaging Het
Bmp2k C T 5: 97,200,970 (GRCm39) P297S possibly damaging Het
Btnl4 A G 17: 34,691,602 (GRCm39) S296P probably benign Het
Bzw2 A T 12: 36,173,980 (GRCm39) V98E probably null Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Catsperb G A 12: 101,507,771 (GRCm39) A513T probably benign Het
Cd19 A G 7: 126,013,664 (GRCm39) S42P probably benign Het
Chml A G 1: 175,514,962 (GRCm39) S138P probably benign Het
Clic6 T G 16: 92,327,827 (GRCm39) probably null Het
Col12a1 A T 9: 79,547,076 (GRCm39) V2252E probably damaging Het
Cplx2 G A 13: 54,527,361 (GRCm39) E82K probably benign Het
Csmd2 G A 4: 128,439,866 (GRCm39) V3107M probably benign Het
Cspg4 T A 9: 56,794,149 (GRCm39) V628D possibly damaging Het
Dcaf13 G A 15: 39,001,637 (GRCm39) R315Q possibly damaging Het
Deaf1 A G 7: 140,877,486 (GRCm39) V547A possibly damaging Het
Dmxl1 C T 18: 50,011,698 (GRCm39) T1285I probably damaging Het
Dnah3 C A 7: 119,646,921 (GRCm39) W1036L probably damaging Het
Dnai3 A G 3: 145,753,922 (GRCm39) S713P probably damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dsg2 T A 18: 20,735,302 (GRCm39) D1093E possibly damaging Het
Edaradd T A 13: 12,523,304 (GRCm39) H12L probably damaging Het
Enam T C 5: 88,640,827 (GRCm39) M163T probably benign Het
Fbxo22 T A 9: 55,128,333 (GRCm39) V218E probably damaging Het
Fbxo34 A T 14: 47,767,085 (GRCm39) K148N probably damaging Het
Foxi3 A G 6: 70,933,960 (GRCm39) D149G probably damaging Het
Gbp8 C T 5: 105,189,807 (GRCm39) G75D probably damaging Het
Gm10784 C T 13: 50,099,251 (GRCm39) noncoding transcript Het
Gm7247 G A 14: 51,807,051 (GRCm39) probably null Het
Grik3 T A 4: 125,544,278 (GRCm39) V333E probably damaging Het
Gsap A T 5: 21,431,309 (GRCm39) D211V probably damaging Het
H2-T15 T C 17: 36,368,768 (GRCm39) Y104C possibly damaging Het
Ino80 T C 2: 119,261,489 (GRCm39) N725S probably damaging Het
Itgad A G 7: 127,788,703 (GRCm39) I443V probably benign Het
Itsn1 T A 16: 91,638,476 (GRCm39) I52N probably damaging Het
Kmt2b TCTCCTCCTCCTCCTCCTCCTCCTCC TCTCCTCCTCCTCCTCCTCCTCC 7: 30,285,783 (GRCm39) probably benign Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Lyn C A 4: 3,738,850 (GRCm39) Q41K probably benign Het
Mapk13 C T 17: 28,997,461 (GRCm39) R360* probably null Het
Mapk8ip3 T A 17: 25,123,726 (GRCm39) I599F probably damaging Het
Me1 T C 9: 86,561,905 (GRCm39) K60R probably benign Het
Mga T A 2: 119,771,974 (GRCm39) D1532E possibly damaging Het
Miga1 G A 3: 151,984,642 (GRCm39) S427L probably benign Het
Mknk2 A T 10: 80,505,173 (GRCm39) V186E probably damaging Het
Myo1a C A 10: 127,546,086 (GRCm39) N236K probably benign Het
Ncf4 T C 15: 78,140,189 (GRCm39) V196A possibly damaging Het
Nlrp5 G T 7: 23,117,603 (GRCm39) L442F probably damaging Het
Olfm4 G A 14: 80,258,747 (GRCm39) D332N probably benign Het
Or4a81 C A 2: 89,619,637 (GRCm39) V20F probably benign Het
Or4b1d T A 2: 89,969,432 (GRCm39) D17V probably damaging Het
Osbpl11 T A 16: 33,016,452 (GRCm39) M69K probably benign Het
Oxnad1 T A 14: 31,824,366 (GRCm39) *312K probably null Het
Plekhg1 A G 10: 3,906,985 (GRCm39) Q634R probably benign Het
Plekhh2 T C 17: 84,882,691 (GRCm39) Y733H probably damaging Het
Ppp1r21 A G 17: 88,856,941 (GRCm39) H132R probably benign Het
Prkcq T C 2: 11,284,333 (GRCm39) V501A possibly damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pudp T C 18: 50,701,259 (GRCm39) D158G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Ranbp3 T A 17: 57,003,640 (GRCm39) probably null Het
Ranbp6 A G 19: 29,787,721 (GRCm39) V877A probably benign Het
Rgsl1 A T 1: 153,693,328 (GRCm39) S618T probably benign Het
Rhox2a A T X: 36,509,015 (GRCm39) I61L probably benign Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rnf207 A C 4: 152,396,612 (GRCm39) D466E probably benign Het
Rnf7 A G 9: 96,353,883 (GRCm39) I80T probably benign Het
Ros1 T A 10: 52,005,764 (GRCm39) I878F possibly damaging Het
Rsbn1 T A 3: 103,861,096 (GRCm39) probably null Het
Sbk1 T C 7: 125,890,301 (GRCm39) S105P probably damaging Het
Sdk1 T C 5: 141,992,380 (GRCm39) Y790H probably damaging Het
Sec62 T A 3: 30,864,683 (GRCm39) N182K unknown Het
Slc15a1 T C 14: 121,715,504 (GRCm39) Y345C probably damaging Het
Slc27a1 G A 8: 72,023,408 (GRCm39) A15T probably benign Het
Slc35d1 A G 4: 103,070,426 (GRCm39) F110L probably damaging Het
Slc39a5 T A 10: 128,233,136 (GRCm39) S333C probably benign Het
Tarbp1 A G 8: 127,173,934 (GRCm39) S927P probably damaging Het
Tns1 A G 1: 73,992,930 (GRCm39) S583P probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trim40 T C 17: 37,193,531 (GRCm39) probably null Het
Trim42 C A 9: 97,244,998 (GRCm39) V601L probably benign Het
Trpc7 G A 13: 57,035,367 (GRCm39) R189C probably damaging Het
Ttc29 A T 8: 79,060,208 (GRCm39) Y376F probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vmn2r68 C A 7: 84,870,743 (GRCm39) A847S probably benign Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging Het
Zfat A G 15: 68,056,325 (GRCm39) Y237H probably damaging Het
Zfp236 A T 18: 82,615,784 (GRCm39) W1840R probably damaging Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp462 T A 4: 55,009,349 (GRCm39) N438K probably benign Het
Zfp952 T A 17: 33,221,899 (GRCm39) V88E probably damaging Het
Znfx1 G T 2: 166,898,276 (GRCm39) A216D probably benign Het
Other mutations in Myt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Myt1 APN 2 181,442,908 (GRCm39) missense probably damaging 1.00
IGL00816:Myt1 APN 2 181,449,308 (GRCm39) missense probably damaging 0.97
IGL01062:Myt1 APN 2 181,439,522 (GRCm39) missense probably damaging 1.00
IGL01069:Myt1 APN 2 181,467,749 (GRCm39) missense probably damaging 1.00
IGL01292:Myt1 APN 2 181,446,805 (GRCm39) missense probably damaging 1.00
IGL01521:Myt1 APN 2 181,467,704 (GRCm39) missense probably damaging 1.00
IGL01926:Myt1 APN 2 181,463,790 (GRCm39) missense probably benign 0.00
IGL01976:Myt1 APN 2 181,437,532 (GRCm39) missense probably damaging 1.00
IGL02066:Myt1 APN 2 181,438,982 (GRCm39) missense probably damaging 1.00
IGL02109:Myt1 APN 2 181,457,410 (GRCm39) splice site probably benign
IGL02209:Myt1 APN 2 181,439,027 (GRCm39) missense probably benign 0.06
IGL02499:Myt1 APN 2 181,467,342 (GRCm39) splice site probably benign
IGL03064:Myt1 APN 2 181,439,594 (GRCm39) missense probably benign 0.31
IGL03394:Myt1 APN 2 181,439,638 (GRCm39) missense probably damaging 1.00
PIT4366001:Myt1 UTSW 2 181,467,731 (GRCm39) missense probably damaging 1.00
R0003:Myt1 UTSW 2 181,443,664 (GRCm39) missense probably damaging 1.00
R0003:Myt1 UTSW 2 181,443,664 (GRCm39) missense probably damaging 1.00
R0362:Myt1 UTSW 2 181,405,186 (GRCm39) unclassified probably benign
R0627:Myt1 UTSW 2 181,437,482 (GRCm39) missense probably benign 0.10
R0650:Myt1 UTSW 2 181,424,408 (GRCm39) nonsense probably null
R0735:Myt1 UTSW 2 181,449,180 (GRCm39) unclassified probably benign
R0744:Myt1 UTSW 2 181,439,298 (GRCm39) intron probably benign
R1115:Myt1 UTSW 2 181,453,024 (GRCm39) nonsense probably null
R1460:Myt1 UTSW 2 181,444,725 (GRCm39) missense probably damaging 1.00
R1471:Myt1 UTSW 2 181,438,904 (GRCm39) missense probably benign
R1836:Myt1 UTSW 2 181,439,068 (GRCm39) missense probably benign
R1905:Myt1 UTSW 2 181,439,549 (GRCm39) missense probably damaging 1.00
R2007:Myt1 UTSW 2 181,437,552 (GRCm39) missense probably benign
R2040:Myt1 UTSW 2 181,467,717 (GRCm39) missense probably damaging 1.00
R2140:Myt1 UTSW 2 181,467,772 (GRCm39) missense probably damaging 1.00
R2323:Myt1 UTSW 2 181,448,350 (GRCm39) missense probably damaging 1.00
R2926:Myt1 UTSW 2 181,467,803 (GRCm39) missense possibly damaging 0.93
R3895:Myt1 UTSW 2 181,461,863 (GRCm39) missense probably damaging 1.00
R4093:Myt1 UTSW 2 181,453,191 (GRCm39) missense probably damaging 1.00
R4693:Myt1 UTSW 2 181,437,532 (GRCm39) missense probably damaging 1.00
R4775:Myt1 UTSW 2 181,464,470 (GRCm39) missense probably damaging 1.00
R4835:Myt1 UTSW 2 181,439,255 (GRCm39) missense probably damaging 0.99
R5111:Myt1 UTSW 2 181,437,678 (GRCm39) missense probably benign 0.01
R5120:Myt1 UTSW 2 181,439,413 (GRCm39) missense probably benign 0.25
R5622:Myt1 UTSW 2 181,438,915 (GRCm39) missense probably benign
R6457:Myt1 UTSW 2 181,405,218 (GRCm39) splice site probably null
R6704:Myt1 UTSW 2 181,453,005 (GRCm39) start codon destroyed probably null
R6752:Myt1 UTSW 2 181,442,875 (GRCm39) missense probably damaging 1.00
R6944:Myt1 UTSW 2 181,439,387 (GRCm39) missense possibly damaging 0.52
R7337:Myt1 UTSW 2 181,444,756 (GRCm39) missense possibly damaging 0.71
R7362:Myt1 UTSW 2 181,439,033 (GRCm39) missense probably benign 0.00
R7368:Myt1 UTSW 2 181,424,384 (GRCm39) missense possibly damaging 0.53
R7385:Myt1 UTSW 2 181,409,498 (GRCm39) splice site probably null
R7411:Myt1 UTSW 2 181,456,899 (GRCm39) missense probably damaging 1.00
R7593:Myt1 UTSW 2 181,439,532 (GRCm39) missense possibly damaging 0.54
R7790:Myt1 UTSW 2 181,439,390 (GRCm39) missense probably benign 0.00
R8035:Myt1 UTSW 2 181,437,532 (GRCm39) missense probably damaging 1.00
R8156:Myt1 UTSW 2 181,464,554 (GRCm39) critical splice donor site probably null
R8338:Myt1 UTSW 2 181,443,655 (GRCm39) missense possibly damaging 0.94
R8419:Myt1 UTSW 2 181,424,399 (GRCm39) nonsense probably null
R8553:Myt1 UTSW 2 181,439,344 (GRCm39) missense possibly damaging 0.91
R9071:Myt1 UTSW 2 181,448,420 (GRCm39) missense possibly damaging 0.87
R9144:Myt1 UTSW 2 181,467,805 (GRCm39) missense possibly damaging 0.95
R9290:Myt1 UTSW 2 181,437,667 (GRCm39) missense probably benign 0.31
R9462:Myt1 UTSW 2 181,467,729 (GRCm39) nonsense probably null
R9502:Myt1 UTSW 2 181,461,991 (GRCm39) missense probably damaging 0.98
R9668:Myt1 UTSW 2 181,452,135 (GRCm39) missense probably damaging 1.00
R9700:Myt1 UTSW 2 181,452,177 (GRCm39) missense probably damaging 1.00
RF006:Myt1 UTSW 2 181,439,566 (GRCm39) missense probably damaging 1.00
Z1177:Myt1 UTSW 2 181,449,395 (GRCm39) missense probably damaging 1.00
Z1177:Myt1 UTSW 2 181,438,955 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAGGATTCCGTCTCAGTAGC -3'
(R):5'- CCAAAGATAACATTTGGAGCTGC -3'

Sequencing Primer
(F):5'- GTCTCAGTAGCTAAGTTGAGCCC -3'
(R):5'- AGATAACATTTGGAGCTGCTTCCTC -3'
Posted On 2015-10-08