Incidental Mutation 'R6791:Mllt6'
| ID |
532605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mllt6
|
| Ensembl Gene |
ENSMUSG00000038437 |
| Gene Name |
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6 |
| Synonyms |
Af17 |
| MMRRC Submission |
044904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6791 (G1)
|
| Quality Score |
184.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97554240-97576289 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97571428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1022
(S1022P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044730]
[ENSMUST00000107586]
|
| AlphaFold |
B1AR10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044730
AA Change: S992P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: S992P
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
55 |
5.92e-7 |
SMART |
|
PHD
|
119 |
178 |
5e-5 |
SMART |
|
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
|
coiled coil region
|
703 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
848 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
901 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107586
AA Change: S1022P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: S1022P
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
55 |
5.92e-7 |
SMART |
|
PHD
|
119 |
178 |
5e-5 |
SMART |
|
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
|
coiled coil region
|
733 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
931 |
N/A |
INTRINSIC |
|
coiled coil region
|
945 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1067 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
| Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
| Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
| Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
| Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
| Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
| Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
| Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
| Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
| Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
| Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
| Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
| Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
| Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
| Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
| Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
| Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
| Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
| Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
| Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,633,860 (GRCm39) |
I616T |
probably benign |
Het |
|
| Other mutations in Mllt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Mllt6
|
APN |
11 |
97,567,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Mllt6
|
APN |
11 |
97,563,310 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01967:Mllt6
|
APN |
11 |
97,565,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02247:Mllt6
|
APN |
11 |
97,561,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03161:Mllt6
|
APN |
11 |
97,557,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0284:Mllt6
|
UTSW |
11 |
97,569,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0718:Mllt6
|
UTSW |
11 |
97,567,185 (GRCm39) |
splice site |
probably benign |
|
|
R0783:Mllt6
|
UTSW |
11 |
97,556,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0811:Mllt6
|
UTSW |
11 |
97,569,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0812:Mllt6
|
UTSW |
11 |
97,569,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0904:Mllt6
|
UTSW |
11 |
97,555,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Mllt6
|
UTSW |
11 |
97,555,772 (GRCm39) |
splice site |
probably benign |
|
|
R1445:Mllt6
|
UTSW |
11 |
97,563,277 (GRCm39) |
splice site |
probably benign |
|
|
R1523:Mllt6
|
UTSW |
11 |
97,555,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Mllt6
|
UTSW |
11 |
97,563,395 (GRCm39) |
missense |
probably benign |
|
|
R1952:Mllt6
|
UTSW |
11 |
97,568,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Mllt6
|
UTSW |
11 |
97,555,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2259:Mllt6
|
UTSW |
11 |
97,555,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2927:Mllt6
|
UTSW |
11 |
97,571,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4866:Mllt6
|
UTSW |
11 |
97,565,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Mllt6
|
UTSW |
11 |
97,569,233 (GRCm39) |
missense |
probably benign |
|
|
R5039:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5058:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5064:Mllt6
|
UTSW |
11 |
97,564,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5115:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5379:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5509:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5510:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5511:Mllt6
|
UTSW |
11 |
97,560,326 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5603:Mllt6
|
UTSW |
11 |
97,564,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Mllt6
|
UTSW |
11 |
97,563,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6030:Mllt6
|
UTSW |
11 |
97,568,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Mllt6
|
UTSW |
11 |
97,568,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6051:Mllt6
|
UTSW |
11 |
97,571,569 (GRCm39) |
nonsense |
probably null |
|
|
R6180:Mllt6
|
UTSW |
11 |
97,569,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6277:Mllt6
|
UTSW |
11 |
97,564,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6667:Mllt6
|
UTSW |
11 |
97,567,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Mllt6
|
UTSW |
11 |
97,565,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Mllt6
|
UTSW |
11 |
97,564,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Mllt6
|
UTSW |
11 |
97,564,394 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7387:Mllt6
|
UTSW |
11 |
97,565,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7484:Mllt6
|
UTSW |
11 |
97,563,442 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7685:Mllt6
|
UTSW |
11 |
97,567,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Mllt6
|
UTSW |
11 |
97,561,142 (GRCm39) |
missense |
probably benign |
|
|
R7862:Mllt6
|
UTSW |
11 |
97,556,631 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8004:Mllt6
|
UTSW |
11 |
97,566,966 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8498:Mllt6
|
UTSW |
11 |
97,567,688 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9044:Mllt6
|
UTSW |
11 |
97,554,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9297:Mllt6
|
UTSW |
11 |
97,563,314 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9457:Mllt6
|
UTSW |
11 |
97,556,586 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9557:Mllt6
|
UTSW |
11 |
97,564,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Mllt6
|
UTSW |
11 |
97,567,251 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCTAGATTGTCTCCCTGTTG -3'
(R):5'- TTGGTCTGAGCAGTGAGGAC -3'
Sequencing Primer
(F):5'- TGGTCTAGCAAGGCAGGCAC -3'
(R):5'- TTGTATTGCTGCCCAGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation