Incidental Mutation 'R7411:Myt1'
ID 575056
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 045492-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 181405125-181469590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 181456899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 906 (H906Q)
Ref Sequence ENSEMBL: ENSMUSP00000079900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000135744]
AlphaFold Q8CFC2
Predicted Effect probably damaging
Transcript: ENSMUST00000081125
AA Change: H906Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: H906Q

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 damaging
Transcript: ENSMUST00000108756
AA Change: H864Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: H864Q

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 possibly damaging
Transcript: ENSMUST00000108757
AA Change: H826Q

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: H826Q

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
SMART Domains Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: H523Q

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
SMART Domains Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: H574Q

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 probably damaging
Transcript: ENSMUST00000135744
AA Change: H61Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121394
Gene: ENSMUSG00000010505
AA Change: H61Q

DomainStartEndE-ValueType
Pfam:zf-C2HC 40 70 4.8e-21 PFAM
Pfam:zf-C2HC 89 119 1.1e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,241 (GRCm39) T276I possibly damaging Het
Abca17 A G 17: 24,547,543 (GRCm39) I277T possibly damaging Het
Abcb11 C T 2: 69,134,280 (GRCm39) probably null Het
Abcc12 C A 8: 87,287,479 (GRCm39) R122L possibly damaging Het
Abcc8 A G 7: 45,815,341 (GRCm39) probably null Het
Adam28 C T 14: 68,864,396 (GRCm39) R469K probably damaging Het
Adamts18 T C 8: 114,504,362 (GRCm39) Y243C probably damaging Het
Agbl3 T C 6: 34,791,754 (GRCm39) S619P probably damaging Het
Alpk3 A T 7: 80,742,600 (GRCm39) T806S probably benign Het
Armh3 A C 19: 45,953,874 (GRCm39) V170G probably benign Het
Atoh1 T A 6: 64,706,914 (GRCm39) I203N probably damaging Het
Cables1 A G 18: 11,973,572 (GRCm39) E237G probably benign Het
Cacna1d A G 14: 30,074,947 (GRCm39) M1T probably null Het
Ccdc91 C T 6: 147,493,696 (GRCm39) Q363* probably null Het
Cdhr17 A T 5: 17,029,763 (GRCm39) T500S possibly damaging Het
Ceacam5 T A 7: 17,484,678 (GRCm39) D473E probably damaging Het
Cfap54 T A 10: 92,704,617 (GRCm39) D2821V unknown Het
Clca3a2 A G 3: 144,507,860 (GRCm39) S737P probably damaging Het
Clec4n T A 6: 123,209,145 (GRCm39) M70K probably benign Het
Dnai3 A G 3: 145,802,900 (GRCm39) V97A probably damaging Het
Dstyk G A 1: 132,345,404 (GRCm39) G21S probably benign Het
Efcab3 T G 11: 104,890,549 (GRCm39) N4210K probably benign Het
Enpp5 A G 17: 44,392,366 (GRCm39) D265G probably damaging Het
Gabrb1 T C 5: 72,279,538 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Guk1 A G 11: 59,076,811 (GRCm39) F91L Het
Ints1 C T 5: 139,750,015 (GRCm39) E961K possibly damaging Het
Irx2 T A 13: 72,777,182 (GRCm39) M1K probably null Het
Jrk C T 15: 74,579,048 (GRCm39) R79H possibly damaging Het
Kcnu1 G T 8: 26,382,116 (GRCm39) V489L probably damaging Het
Kctd7 C T 5: 130,181,265 (GRCm39) T209M probably benign Het
Kdm5a T A 6: 120,403,776 (GRCm39) V1127E probably damaging Het
Klk6 A G 7: 43,476,367 (GRCm39) H69R probably damaging Het
Lck T C 4: 129,445,763 (GRCm39) K340R probably benign Het
Lrrc75a A G 11: 62,496,734 (GRCm39) L276P probably damaging Het
Med25 A G 7: 44,527,667 (GRCm39) W730R probably damaging Het
Muc4 T C 16: 32,570,140 (GRCm39) V400A probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ncl A T 1: 86,278,564 (GRCm39) F673I probably damaging Het
Nfe2l1 G T 11: 96,713,009 (GRCm39) T216N probably benign Het
Nos2 G A 11: 78,835,681 (GRCm39) probably null Het
Nphp4 T A 4: 152,639,174 (GRCm39) I935N probably benign Het
Ntn1 G A 11: 68,276,915 (GRCm39) A11V probably benign Het
Or2t26 A T 11: 49,039,821 (GRCm39) M246L probably benign Het
Or4c10b T C 2: 89,711,605 (GRCm39) V145A probably damaging Het
Pate11 T C 9: 36,386,980 (GRCm39) V16A possibly damaging Het
Pcdha12 A G 18: 37,154,661 (GRCm39) Y460C probably damaging Het
Pcdha4 G T 18: 37,086,111 (GRCm39) R98L probably benign Het
Pitpnc1 A G 11: 107,103,398 (GRCm39) S234P probably damaging Het
Pmfbp1 A T 8: 110,240,503 (GRCm39) Y195F probably damaging Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Ptpn18 G A 1: 34,511,273 (GRCm39) probably null Het
Rhbdl2 G A 4: 123,723,435 (GRCm39) A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Sema3a T G 5: 13,566,230 (GRCm39) Y171* probably null Het
Set A G 2: 29,956,897 (GRCm39) E22G probably benign Het
Sirpb1b A T 3: 15,608,057 (GRCm39) D229E probably benign Het
Slc12a2 A T 18: 58,074,085 (GRCm39) I1096F probably benign Het
Slc30a5 T C 13: 100,954,688 (GRCm39) I159V probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,434,013 (GRCm39) I275T probably benign Het
Speer1e T A 5: 11,233,116 (GRCm39) probably null Het
Stradb A C 1: 59,027,677 (GRCm39) D69A possibly damaging Het
Supt16 A T 14: 52,415,508 (GRCm39) V409E probably damaging Het
Tcea2 A G 2: 181,328,457 (GRCm39) N195S probably damaging Het
Thumpd3 T C 6: 113,033,072 (GRCm39) V270A possibly damaging Het
Urgcp T A 11: 5,668,116 (GRCm39) H117L probably benign Het
Vps13c T A 9: 67,879,283 (GRCm39) M3408K probably damaging Het
Wdfy4 A C 14: 32,828,088 (GRCm39) M1078R Het
Ypel5 G A 17: 73,153,439 (GRCm39) probably null 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
R4649:Myt1 UTSW 2 181,439,207 (GRCm39) missense probably benign
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
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'- TGCTCCTTTGTAAAGAGGTGC -3'
(R):5'- CTCTTCAGGAGCCTCTAAGC -3'

Sequencing Primer
(F):5'- GCTCCTTTGTAAAGAGGTGCTTAAAG -3'
(R):5'- AGGAGCCTCTAAGCTGACACTTTG -3'
Posted On 2019-10-07