Incidental Mutation 'R1671:Tle4'
| ID |
187652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tle4
|
| Ensembl Gene |
ENSMUSG00000024642 |
| Gene Name |
transducin-like enhancer of split 4 |
| Synonyms |
Bce1, Grg4, ESTM14, ESTM13, 5730411M05Rik |
| MMRRC Submission |
039707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1671 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
14425514-14575415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14431103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 560
(W560R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052011]
[ENSMUST00000167776]
|
| AlphaFold |
Q62441 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052011
AA Change: W560R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: W560R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
8 |
138 |
9.1e-76 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
WD40
|
477 |
514 |
4.18e-2 |
SMART |
|
WD40
|
520 |
561 |
3.64e-2 |
SMART |
|
WD40
|
566 |
605 |
9.38e-5 |
SMART |
|
WD40
|
608 |
647 |
1.14e-8 |
SMART |
|
WD40
|
650 |
688 |
2.29e1 |
SMART |
|
WD40
|
690 |
729 |
7.39e-3 |
SMART |
|
WD40
|
730 |
770 |
4.14e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167776
AA Change: W560R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: W560R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TLE_N
|
8 |
138 |
5.1e-76 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
316 |
N/A |
INTRINSIC |
|
WD40
|
477 |
514 |
4.18e-2 |
SMART |
|
WD40
|
520 |
561 |
3.64e-2 |
SMART |
|
WD40
|
566 |
605 |
9.38e-5 |
SMART |
|
WD40
|
608 |
647 |
1.14e-8 |
SMART |
|
WD40
|
650 |
688 |
2.29e1 |
SMART |
|
WD40
|
690 |
729 |
7.39e-3 |
SMART |
|
WD40
|
730 |
770 |
4.14e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.9677 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
C |
14: 64,210,637 (GRCm39) |
L197R |
probably benign |
Het |
| Arglu1 |
A |
G |
8: 8,733,896 (GRCm39) |
V140A |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,067,542 (GRCm39) |
E1461G |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,860,573 (GRCm39) |
D611V |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,341 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
C |
14: 56,802,502 (GRCm39) |
M21R |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,623,421 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,083,773 (GRCm39) |
N561K |
possibly damaging |
Het |
| Cyp2c70 |
G |
A |
19: 40,142,081 (GRCm39) |
P470L |
probably damaging |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,883 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,266,225 (GRCm39) |
V48D |
possibly damaging |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,818,789 (GRCm39) |
V3183A |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,472,054 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,384,179 (GRCm39) |
Y9F |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,977,231 (GRCm39) |
S93T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,801,400 (GRCm39) |
R19C |
probably damaging |
Het |
| Gmnn |
A |
T |
13: 24,936,054 (GRCm39) |
*207R |
probably null |
Het |
| Gucy1a1 |
A |
C |
3: 82,013,529 (GRCm39) |
I371S |
probably damaging |
Het |
| H1f11-ps |
C |
A |
19: 47,159,294 (GRCm39) |
V94L |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,235,921 (GRCm39) |
S1420* |
probably null |
Het |
| Itih5 |
G |
T |
2: 10,191,782 (GRCm39) |
V106L |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,609,038 (GRCm39) |
I201K |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lars2 |
C |
T |
9: 123,247,344 (GRCm39) |
T283I |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,492,498 (GRCm39) |
I1313T |
probably damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,458,235 (GRCm39) |
R368* |
probably null |
Het |
| Mdga1 |
A |
T |
17: 30,069,603 (GRCm39) |
Y422N |
probably damaging |
Het |
| Mro |
A |
T |
18: 74,003,126 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
C |
A |
11: 71,092,085 (GRCm39) |
V14L |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,838 (GRCm39) |
D1157G |
probably damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,523,780 (GRCm39) |
R598S |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,381,435 (GRCm39) |
W49R |
possibly damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,290 (GRCm39) |
K269E |
probably damaging |
Het |
| Or52ae9 |
C |
A |
7: 103,389,617 (GRCm39) |
A277S |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,428 (GRCm39) |
M144V |
probably benign |
Het |
| Otog |
A |
T |
7: 45,911,210 (GRCm39) |
D687V |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,432,232 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Raet1d |
A |
G |
10: 22,238,614 (GRCm39) |
M1V |
probably null |
Het |
| Rnf6 |
A |
T |
5: 146,147,998 (GRCm39) |
L340* |
probably null |
Het |
| Rsl1d1 |
T |
C |
16: 11,019,245 (GRCm39) |
T99A |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,130 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
A |
G |
12: 82,444,235 (GRCm39) |
Y982C |
probably damaging |
Het |
| Sorbs3 |
G |
T |
14: 70,428,915 (GRCm39) |
R417S |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,885,296 (GRCm39) |
C2102R |
probably damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,235,106 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
T |
A |
11: 30,092,245 (GRCm39) |
I494F |
possibly damaging |
Het |
| Tank |
T |
A |
2: 61,480,097 (GRCm39) |
V211E |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,488,120 (GRCm39) |
D840E |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,236 (GRCm39) |
C1146S |
possibly damaging |
Het |
| Tiam2 |
A |
T |
17: 3,557,109 (GRCm39) |
E110V |
probably damaging |
Het |
| Triml2 |
G |
A |
8: 43,636,780 (GRCm39) |
R76H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,541,964 (GRCm39) |
E25347G |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,586,889 (GRCm38) |
L124P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,103,265 (GRCm39) |
K153E |
probably benign |
Het |
| Wnt16 |
A |
T |
6: 22,298,178 (GRCm39) |
Y348F |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,707,715 (GRCm39) |
V897A |
possibly damaging |
Het |
| Zbtb26 |
T |
C |
2: 37,326,377 (GRCm39) |
T220A |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,224,675 (GRCm39) |
S141T |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,580,305 (GRCm39) |
Y128H |
possibly damaging |
Het |
|
| Other mutations in Tle4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Tle4
|
APN |
19 |
14,445,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01449:Tle4
|
APN |
19 |
14,442,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01618:Tle4
|
APN |
19 |
14,522,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01636:Tle4
|
APN |
19 |
14,429,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01750:Tle4
|
APN |
19 |
14,427,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Tle4
|
APN |
19 |
14,571,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
BB016:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0006:Tle4
|
UTSW |
19 |
14,444,078 (GRCm39) |
splice site |
probably benign |
|
|
R1068:Tle4
|
UTSW |
19 |
14,429,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Tle4
|
UTSW |
19 |
14,445,626 (GRCm39) |
missense |
probably benign |
|
|
R1594:Tle4
|
UTSW |
19 |
14,430,970 (GRCm39) |
nonsense |
probably null |
|
|
R1891:Tle4
|
UTSW |
19 |
14,522,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Tle4
|
UTSW |
19 |
14,493,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2068:Tle4
|
UTSW |
19 |
14,427,113 (GRCm39) |
nonsense |
probably null |
|
|
R3858:Tle4
|
UTSW |
19 |
14,445,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3859:Tle4
|
UTSW |
19 |
14,445,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3946:Tle4
|
UTSW |
19 |
14,574,752 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4357:Tle4
|
UTSW |
19 |
14,445,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4395:Tle4
|
UTSW |
19 |
14,495,302 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4491:Tle4
|
UTSW |
19 |
14,432,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Tle4
|
UTSW |
19 |
14,441,709 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4860:Tle4
|
UTSW |
19 |
14,441,709 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5336:Tle4
|
UTSW |
19 |
14,432,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5516:Tle4
|
UTSW |
19 |
14,432,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5611:Tle4
|
UTSW |
19 |
14,427,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Tle4
|
UTSW |
19 |
14,429,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6032:Tle4
|
UTSW |
19 |
14,429,472 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6113:Tle4
|
UTSW |
19 |
14,572,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6513:Tle4
|
UTSW |
19 |
14,429,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6995:Tle4
|
UTSW |
19 |
14,541,817 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7175:Tle4
|
UTSW |
19 |
14,429,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Tle4
|
UTSW |
19 |
14,495,155 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7929:Tle4
|
UTSW |
19 |
14,495,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8369:Tle4
|
UTSW |
19 |
14,429,876 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8396:Tle4
|
UTSW |
19 |
14,432,323 (GRCm39) |
nonsense |
probably null |
|
|
R8847:Tle4
|
UTSW |
19 |
14,493,737 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Tle4
|
UTSW |
19 |
14,445,583 (GRCm39) |
missense |
probably benign |
|
|
R9279:Tle4
|
UTSW |
19 |
14,429,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Tle4
|
UTSW |
19 |
14,574,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Tle4
|
UTSW |
19 |
14,495,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGGTTGTGCAGATCCCACAC -3'
(R):5'- CCTCAGCAAAGTATGACAGGGCTTC -3'
Sequencing Primer
(F):5'- GATCCCACACTGCGATGTTAC -3'
(R):5'- GTGTGCAGATTACATCCACACTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation