Incidental Mutation 'R6748:Aff3'
| ID |
530625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aff3
|
| Ensembl Gene |
ENSMUSG00000037138 |
| Gene Name |
AF4/FMR2 family, member 3 |
| Synonyms |
LAF-4, 3222402O04Rik, Laf4 |
| MMRRC Submission |
044865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38216407-38704036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38574327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Isoleucine
at position 178
(R178I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039827]
[ENSMUST00000095027]
[ENSMUST00000134963]
[ENSMUST00000212668]
|
| AlphaFold |
P51827 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027250
|
| SMART Domains |
Protein: ENSMUSP00000027250
Gene: ENSMUSG00000037138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
20 |
171 |
2.7e-48 |
PFAM |
|
Pfam:AF-4
|
159 |
350 |
2.6e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039827
AA Change: R178I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: R178I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
20 |
170 |
4.9e-63 |
PFAM |
|
Pfam:AF-4
|
160 |
1226 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095027
AA Change: R178I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: R178I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
20 |
172 |
1.7e-47 |
PFAM |
|
Pfam:AF-4
|
161 |
1226 |
3.8e-268 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212668
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
| C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
| Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
| Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
| Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
| Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
| Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
| Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
| Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
| Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,216,447 (GRCm39) |
K80R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
| Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
| Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
probably damaging |
Het |
|
| Other mutations in Aff3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Aff3
|
APN |
1 |
38,574,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02263:Aff3
|
APN |
1 |
38,574,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Aff3
|
APN |
1 |
38,574,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Aff3
|
APN |
1 |
38,248,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Aff3
|
APN |
1 |
38,574,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03389:Aff3
|
APN |
1 |
38,249,430 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4377001:Aff3
|
UTSW |
1 |
38,578,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4544001:Aff3
|
UTSW |
1 |
38,249,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0004:Aff3
|
UTSW |
1 |
38,308,807 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0004:Aff3
|
UTSW |
1 |
38,308,807 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0026:Aff3
|
UTSW |
1 |
38,242,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0279:Aff3
|
UTSW |
1 |
38,574,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Aff3
|
UTSW |
1 |
38,243,013 (GRCm39) |
missense |
probably benign |
|
|
R0375:Aff3
|
UTSW |
1 |
38,244,021 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0605:Aff3
|
UTSW |
1 |
38,249,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Aff3
|
UTSW |
1 |
38,249,004 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0742:Aff3
|
UTSW |
1 |
38,666,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1156:Aff3
|
UTSW |
1 |
38,243,991 (GRCm39) |
missense |
probably benign |
|
|
R1255:Aff3
|
UTSW |
1 |
38,243,965 (GRCm39) |
splice site |
probably null |
|
|
R1448:Aff3
|
UTSW |
1 |
38,230,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Aff3
|
UTSW |
1 |
38,368,945 (GRCm39) |
splice site |
probably benign |
|
|
R1780:Aff3
|
UTSW |
1 |
38,574,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Aff3
|
UTSW |
1 |
38,249,385 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2011:Aff3
|
UTSW |
1 |
38,246,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2331:Aff3
|
UTSW |
1 |
38,243,971 (GRCm39) |
splice site |
probably null |
|
|
R2965:Aff3
|
UTSW |
1 |
38,248,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2970:Aff3
|
UTSW |
1 |
38,574,103 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3015:Aff3
|
UTSW |
1 |
38,249,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3763:Aff3
|
UTSW |
1 |
38,291,770 (GRCm39) |
splice site |
probably benign |
|
|
R4174:Aff3
|
UTSW |
1 |
38,247,008 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4436:Aff3
|
UTSW |
1 |
38,248,768 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4661:Aff3
|
UTSW |
1 |
38,666,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5069:Aff3
|
UTSW |
1 |
38,220,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5566:Aff3
|
UTSW |
1 |
38,220,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6023:Aff3
|
UTSW |
1 |
38,257,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6209:Aff3
|
UTSW |
1 |
38,232,670 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6467:Aff3
|
UTSW |
1 |
38,247,098 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6862:Aff3
|
UTSW |
1 |
38,445,578 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6880:Aff3
|
UTSW |
1 |
38,666,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6880:Aff3
|
UTSW |
1 |
38,574,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7187:Aff3
|
UTSW |
1 |
38,257,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8322:Aff3
|
UTSW |
1 |
38,220,742 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8329:Aff3
|
UTSW |
1 |
38,244,135 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8737:Aff3
|
UTSW |
1 |
38,308,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Aff3
|
UTSW |
1 |
38,291,738 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9146:Aff3
|
UTSW |
1 |
38,359,200 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9149:Aff3
|
UTSW |
1 |
38,220,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Aff3
|
UTSW |
1 |
38,249,559 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9446:Aff3
|
UTSW |
1 |
38,574,337 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9581:Aff3
|
UTSW |
1 |
38,249,266 (GRCm39) |
missense |
probably benign |
|
|
R9645:Aff3
|
UTSW |
1 |
38,249,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Aff3
|
UTSW |
1 |
38,248,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Aff3
|
UTSW |
1 |
38,368,953 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGTAGGCAGTTGGTTTC -3'
(R):5'- AGCATTTTGGGGCAGAGTC -3'
Sequencing Primer
(F):5'- CAGTTGGTTTCTGCTGCACCAG -3'
(R):5'- TCAACCGTCTGCAGCACTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation