Incidental Mutation 'R8315:Tle1'
ID |
641622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tle1
|
Ensembl Gene |
ENSMUSG00000008305 |
Gene Name |
transducin-like enhancer of split 1 |
Synonyms |
C230057C06Rik, Estm14, Grg1, Tle4l |
MMRRC Submission |
067720-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.575)
|
Stock # |
R8315 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
72035379-72119156 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 72044428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 526
(C526*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030095]
[ENSMUST00000072695]
[ENSMUST00000074216]
[ENSMUST00000102848]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000030095
AA Change: C536*
|
SMART Domains |
Protein: ENSMUSP00000030095 Gene: ENSMUSG00000008305 AA Change: C536*
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
143 |
9.1e-77 |
PFAM |
low complexity region
|
155 |
183 |
N/A |
INTRINSIC |
low complexity region
|
240 |
255 |
N/A |
INTRINSIC |
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
WD40
|
484 |
521 |
4.18e-2 |
SMART |
WD40
|
527 |
568 |
1.03e-1 |
SMART |
WD40
|
573 |
612 |
9.38e-5 |
SMART |
WD40
|
615 |
654 |
1.14e-8 |
SMART |
WD40
|
657 |
695 |
3.07e1 |
SMART |
WD40
|
697 |
736 |
8.96e-2 |
SMART |
WD40
|
737 |
777 |
4.14e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000072695
AA Change: C526*
|
SMART Domains |
Protein: ENSMUSP00000072481 Gene: ENSMUSG00000008305 AA Change: C526*
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
136 |
2.6e-78 |
PFAM |
low complexity region
|
145 |
173 |
N/A |
INTRINSIC |
low complexity region
|
230 |
245 |
N/A |
INTRINSIC |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
WD40
|
474 |
511 |
4.18e-2 |
SMART |
WD40
|
517 |
558 |
1.03e-1 |
SMART |
WD40
|
563 |
602 |
9.38e-5 |
SMART |
WD40
|
605 |
644 |
1.14e-8 |
SMART |
WD40
|
647 |
685 |
3.07e1 |
SMART |
WD40
|
687 |
726 |
8.96e-2 |
SMART |
WD40
|
727 |
767 |
4.14e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000074216
AA Change: C526*
|
SMART Domains |
Protein: ENSMUSP00000073839 Gene: ENSMUSG00000008305 AA Change: C526*
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
136 |
1.3e-78 |
PFAM |
low complexity region
|
145 |
173 |
N/A |
INTRINSIC |
low complexity region
|
230 |
245 |
N/A |
INTRINSIC |
low complexity region
|
255 |
266 |
N/A |
INTRINSIC |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
WD40
|
474 |
511 |
4.18e-2 |
SMART |
WD40
|
517 |
558 |
1.03e-1 |
SMART |
WD40
|
563 |
602 |
9.38e-5 |
SMART |
WD40
|
605 |
644 |
1.14e-8 |
SMART |
WD40
|
647 |
685 |
3.07e1 |
SMART |
WD40
|
687 |
726 |
8.96e-2 |
SMART |
WD40
|
727 |
767 |
4.14e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102848
AA Change: C533*
|
SMART Domains |
Protein: ENSMUSP00000099912 Gene: ENSMUSG00000008305 AA Change: C533*
Domain | Start | End | E-Value | Type |
Pfam:TLE_N
|
1 |
144 |
1.3e-76 |
PFAM |
low complexity region
|
153 |
181 |
N/A |
INTRINSIC |
low complexity region
|
238 |
253 |
N/A |
INTRINSIC |
low complexity region
|
263 |
274 |
N/A |
INTRINSIC |
low complexity region
|
290 |
312 |
N/A |
INTRINSIC |
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
WD40
|
481 |
518 |
4.18e-2 |
SMART |
WD40
|
524 |
565 |
1.03e-1 |
SMART |
WD40
|
570 |
609 |
9.38e-5 |
SMART |
WD40
|
612 |
651 |
1.14e-8 |
SMART |
WD40
|
654 |
692 |
3.07e1 |
SMART |
WD40
|
694 |
733 |
8.96e-2 |
SMART |
WD40
|
734 |
774 |
4.14e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,328,460 (GRCm39) |
E3511V |
probably null |
Het |
Abca13 |
A |
G |
11: 9,535,502 (GRCm39) |
T4709A |
probably benign |
Het |
Aff1 |
G |
T |
5: 103,958,956 (GRCm39) |
V342F |
probably damaging |
Het |
Ahnak2 |
T |
A |
12: 112,745,756 (GRCm39) |
Q1698L |
|
Het |
Ajap1 |
G |
T |
4: 153,516,813 (GRCm39) |
T176K |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Cct3 |
A |
G |
3: 88,220,564 (GRCm39) |
T259A |
probably benign |
Het |
Cdk8 |
C |
T |
5: 146,205,061 (GRCm39) |
L21F |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,262,686 (GRCm39) |
R262G |
probably benign |
Het |
Csf2rb |
G |
A |
15: 78,231,581 (GRCm39) |
G494D |
possibly damaging |
Het |
Cstf3 |
G |
T |
2: 104,420,926 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
Dcp2 |
T |
C |
18: 44,529,071 (GRCm39) |
I62T |
probably benign |
Het |
Dnaaf9 |
ATCCTCCTCCTCCTCCTCC |
ATCCTCCTCCTCCTCC |
2: 130,612,655 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,988,133 (GRCm39) |
*893Q |
probably null |
Het |
Dpyd |
A |
T |
3: 119,108,534 (GRCm39) |
H859L |
probably benign |
Het |
Dst |
T |
C |
1: 34,323,501 (GRCm39) |
|
probably null |
Het |
Dynlt2a2 |
A |
G |
17: 15,190,717 (GRCm39) |
Y81H |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,825,027 (GRCm39) |
I456V |
probably benign |
Het |
Elf3 |
A |
G |
1: 135,184,314 (GRCm39) |
F185L |
probably benign |
Het |
Emx1 |
A |
G |
6: 85,171,088 (GRCm39) |
T164A |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,891,041 (GRCm39) |
V2857M |
probably damaging |
Het |
Gba2 |
AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA |
AAA |
4: 43,569,937 (GRCm39) |
|
probably null |
Het |
Gda |
T |
A |
19: 21,394,435 (GRCm39) |
T215S |
probably benign |
Het |
Gm14443 |
C |
T |
2: 175,013,640 (GRCm39) |
|
probably null |
Het |
Gpr152 |
C |
T |
19: 4,193,469 (GRCm39) |
P337S |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,429,905 (GRCm39) |
I296T |
probably benign |
Het |
Hoxd11 |
G |
A |
2: 74,513,466 (GRCm39) |
E244K |
probably benign |
Het |
Inka1 |
C |
A |
9: 107,861,506 (GRCm39) |
S270I |
probably damaging |
Het |
Kazn |
C |
T |
4: 141,869,002 (GRCm39) |
D325N |
|
Het |
Lama2 |
T |
C |
10: 27,298,655 (GRCm39) |
N147S |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,119,167 (GRCm39) |
N817K |
probably benign |
Het |
Met |
T |
C |
6: 17,533,956 (GRCm39) |
S636P |
probably damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,251,051 (GRCm39) |
M1K |
probably null |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Or10ag2 |
C |
A |
2: 87,248,995 (GRCm39) |
A201D |
probably damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Or8c13 |
T |
C |
9: 38,091,505 (GRCm39) |
T205A |
probably benign |
Het |
Pbx2 |
A |
G |
17: 34,811,707 (GRCm39) |
I60M |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,761,965 (GRCm39) |
N164S |
probably benign |
Het |
Poln |
A |
G |
5: 34,266,717 (GRCm39) |
M480T |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,261,177 (GRCm39) |
N181S |
probably damaging |
Het |
Ppp3r2 |
A |
C |
4: 49,681,705 (GRCm39) |
F82V |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,142,182 (GRCm39) |
V7A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,063 (GRCm39) |
I33K |
possibly damaging |
Het |
Rad21l |
A |
T |
2: 151,497,160 (GRCm39) |
M318K |
probably benign |
Het |
Rftn1 |
A |
G |
17: 50,309,665 (GRCm39) |
S445P |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Rtp4 |
C |
T |
16: 23,431,998 (GRCm39) |
P177S |
possibly damaging |
Het |
Saa4 |
T |
A |
7: 46,379,052 (GRCm39) |
N96I |
possibly damaging |
Het |
Shb |
A |
G |
4: 45,489,079 (GRCm39) |
Y266H |
probably damaging |
Het |
Slc45a4 |
T |
G |
15: 73,461,405 (GRCm39) |
Y88S |
probably damaging |
Het |
Tbccd1 |
A |
G |
16: 22,641,564 (GRCm39) |
M312T |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,299,121 (GRCm39) |
|
probably null |
Het |
Tmem87a |
C |
T |
2: 120,234,441 (GRCm39) |
G34D |
probably damaging |
Het |
Trav13d-1 |
C |
A |
14: 53,089,059 (GRCm39) |
Q23K |
probably benign |
Het |
Txndc11 |
G |
T |
16: 10,893,465 (GRCm39) |
T755N |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,434,339 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,643,932 (GRCm39) |
Y826F |
possibly damaging |
Het |
Wdr90 |
A |
T |
17: 26,064,399 (GRCm39) |
M1824K |
probably benign |
Het |
Zfp523 |
G |
A |
17: 28,421,562 (GRCm39) |
G440D |
possibly damaging |
Het |
|
Other mutations in Tle1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Tle1
|
APN |
4 |
72,087,355 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00972:Tle1
|
APN |
4 |
72,040,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01548:Tle1
|
APN |
4 |
72,088,955 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01737:Tle1
|
APN |
4 |
72,116,058 (GRCm39) |
splice site |
probably benign |
|
IGL01798:Tle1
|
APN |
4 |
72,055,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01943:Tle1
|
APN |
4 |
72,040,639 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
BB016:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
PIT4515001:Tle1
|
UTSW |
4 |
72,117,556 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0140:Tle1
|
UTSW |
4 |
72,038,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Tle1
|
UTSW |
4 |
72,043,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R0603:Tle1
|
UTSW |
4 |
72,036,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Tle1
|
UTSW |
4 |
72,044,679 (GRCm39) |
splice site |
probably benign |
|
R0786:Tle1
|
UTSW |
4 |
72,117,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R0939:Tle1
|
UTSW |
4 |
72,036,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1297:Tle1
|
UTSW |
4 |
72,043,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Tle1
|
UTSW |
4 |
72,058,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Tle1
|
UTSW |
4 |
72,058,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Tle1
|
UTSW |
4 |
72,059,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Tle1
|
UTSW |
4 |
72,038,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Tle1
|
UTSW |
4 |
72,117,556 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3713:Tle1
|
UTSW |
4 |
72,044,659 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4367:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
R4379:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
R4380:Tle1
|
UTSW |
4 |
72,036,400 (GRCm39) |
utr 3 prime |
probably benign |
|
R4655:Tle1
|
UTSW |
4 |
72,063,581 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4662:Tle1
|
UTSW |
4 |
72,055,335 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4731:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4732:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4733:Tle1
|
UTSW |
4 |
72,043,256 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4812:Tle1
|
UTSW |
4 |
72,063,591 (GRCm39) |
missense |
probably damaging |
0.98 |
R5066:Tle1
|
UTSW |
4 |
72,076,504 (GRCm39) |
missense |
probably benign |
0.24 |
R5288:Tle1
|
UTSW |
4 |
72,060,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Tle1
|
UTSW |
4 |
72,060,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5405:Tle1
|
UTSW |
4 |
72,057,208 (GRCm39) |
intron |
probably benign |
|
R5579:Tle1
|
UTSW |
4 |
72,058,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Tle1
|
UTSW |
4 |
72,043,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5762:Tle1
|
UTSW |
4 |
72,038,372 (GRCm39) |
splice site |
probably null |
|
R6617:Tle1
|
UTSW |
4 |
72,059,517 (GRCm39) |
missense |
probably damaging |
0.98 |
R6750:Tle1
|
UTSW |
4 |
72,040,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R7077:Tle1
|
UTSW |
4 |
72,076,612 (GRCm39) |
missense |
probably benign |
0.25 |
R7153:Tle1
|
UTSW |
4 |
72,057,298 (GRCm39) |
missense |
probably benign |
0.03 |
R7156:Tle1
|
UTSW |
4 |
72,088,953 (GRCm39) |
missense |
probably benign |
0.15 |
R7266:Tle1
|
UTSW |
4 |
72,057,924 (GRCm39) |
critical splice donor site |
probably null |
|
R7316:Tle1
|
UTSW |
4 |
72,036,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7478:Tle1
|
UTSW |
4 |
72,055,349 (GRCm39) |
missense |
probably damaging |
0.96 |
R7523:Tle1
|
UTSW |
4 |
72,063,655 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7736:Tle1
|
UTSW |
4 |
72,117,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R7862:Tle1
|
UTSW |
4 |
72,117,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7863:Tle1
|
UTSW |
4 |
72,059,529 (GRCm39) |
missense |
probably null |
0.68 |
R7929:Tle1
|
UTSW |
4 |
72,118,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8074:Tle1
|
UTSW |
4 |
72,057,216 (GRCm39) |
frame shift |
probably null |
|
R8233:Tle1
|
UTSW |
4 |
72,043,181 (GRCm39) |
missense |
probably benign |
0.11 |
R8350:Tle1
|
UTSW |
4 |
72,057,203 (GRCm39) |
intron |
probably benign |
|
R8494:Tle1
|
UTSW |
4 |
72,043,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8512:Tle1
|
UTSW |
4 |
72,040,670 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8919:Tle1
|
UTSW |
4 |
72,076,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9171:Tle1
|
UTSW |
4 |
72,043,232 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9192:Tle1
|
UTSW |
4 |
72,036,753 (GRCm39) |
missense |
probably benign |
0.12 |
R9391:Tle1
|
UTSW |
4 |
72,116,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Tle1
|
UTSW |
4 |
72,040,596 (GRCm39) |
missense |
probably benign |
0.41 |
R9481:Tle1
|
UTSW |
4 |
72,044,504 (GRCm39) |
missense |
probably damaging |
0.96 |
R9497:Tle1
|
UTSW |
4 |
72,071,135 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCGTGTGTTCAAAGTGAGCTC -3'
(R):5'- TGATGCCCTCATTGGACCTG -3'
Sequencing Primer
(F):5'- GTGTGTTCAAAGTGAGCTCCAAACC -3'
(R):5'- CATTGGACCTGGGATTCCC -3'
|
Posted On |
2020-07-28 |