Incidental Mutation 'R8322:Aff3'
| ID |
641991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aff3
|
| Ensembl Gene |
ENSMUSG00000037138 |
| Gene Name |
AF4/FMR2 family, member 3 |
| Synonyms |
LAF-4, 3222402O04Rik, Laf4 |
| MMRRC Submission |
067798-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
38216407-38704036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38220742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1100
(S1100P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039827]
[ENSMUST00000095027]
|
| AlphaFold |
P51827 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039827
AA Change: S1099P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044128
Gene: ENSMUSG00000037138
AA Change: S1099P
| 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 |
possibly damaging
Transcript: ENSMUST00000095027
AA Change: S1100P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092637
Gene: ENSMUSG00000037138
AA Change: S1100P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AF-4
|
20 |
172 |
1.7e-47 |
PFAM |
|
Pfam:AF-4
|
161 |
1226 |
3.8e-268 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,219 (GRCm39) |
S209G |
probably benign |
Het |
| Aars1 |
T |
C |
8: 111,772,160 (GRCm39) |
L450P |
possibly damaging |
Het |
| Acsbg1 |
G |
A |
9: 54,523,268 (GRCm39) |
T453M |
probably benign |
Het |
| B4galt5 |
G |
A |
2: 167,190,849 (GRCm39) |
A35V |
probably benign |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,683 (GRCm39) |
S118P |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,705,628 (GRCm39) |
E206D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,725,993 (GRCm39) |
L3066P |
probably damaging |
Het |
| Cers3 |
T |
G |
7: 66,439,386 (GRCm39) |
L299R |
probably damaging |
Het |
| Cfhr2 |
G |
T |
1: 139,738,696 (GRCm39) |
H288Q |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,496,472 (GRCm39) |
M278K |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,456,537 (GRCm39) |
E166G |
probably damaging |
Het |
| Ctsd |
T |
A |
7: 141,939,197 (GRCm39) |
D76V |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,610,003 (GRCm39) |
F472L |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,454,635 (GRCm39) |
D118E |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,752,950 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,855,903 (GRCm39) |
R236S |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,259,260 (GRCm39) |
T439A |
probably benign |
Het |
| Flg |
T |
C |
3: 93,191,639 (GRCm39) |
Y11H |
unknown |
Het |
| Fn1 |
T |
A |
1: 71,667,618 (GRCm39) |
I792L |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,522,242 (GRCm39) |
S42P |
probably benign |
Het |
| Gimap3 |
A |
G |
6: 48,742,370 (GRCm39) |
S187P |
possibly damaging |
Het |
| Gli1 |
C |
A |
10: 127,167,477 (GRCm39) |
R592L |
probably damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,498,037 (GRCm39) |
I124N |
probably damaging |
Het |
| Hbp1 |
C |
T |
12: 31,983,387 (GRCm39) |
D356N |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,373 (GRCm39) |
S367P |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr1 |
C |
A |
6: 108,365,190 (GRCm39) |
N880K |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,355,842 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,603,116 (GRCm39) |
T39A |
unknown |
Het |
| Kcnk2 |
T |
A |
1: 189,072,046 (GRCm39) |
Q98L |
probably benign |
Het |
| Kcnn4 |
G |
A |
7: 24,083,545 (GRCm39) |
G409S |
probably benign |
Het |
| Klrb1 |
T |
A |
6: 128,690,576 (GRCm39) |
I49F |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,908,237 (GRCm39) |
V573I |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,047,496 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,746,506 (GRCm39) |
S385P |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,440 (GRCm39) |
S152P |
possibly damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,091 (GRCm39) |
D427E |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,241 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,630 (GRCm39) |
Q832* |
probably null |
Het |
| Pcid2 |
A |
G |
8: 13,128,555 (GRCm39) |
I368T |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,175,437 (GRCm39) |
Y464H |
|
Het |
| Plekhg5 |
T |
G |
4: 152,189,201 (GRCm39) |
S260R |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,532,005 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,072,999 (GRCm39) |
E115D |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,978,877 (GRCm39) |
N285Y |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,148,386 (GRCm39) |
C609S |
possibly damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,706 (GRCm39) |
Q360R |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,868,658 (GRCm39) |
T562A |
probably benign |
Het |
| Rundc1 |
G |
A |
11: 101,322,992 (GRCm39) |
G317D |
probably benign |
Het |
| Rusf1 |
C |
T |
7: 127,889,786 (GRCm39) |
R1H |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,145,656 (GRCm39) |
I426N |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,523 (GRCm39) |
D182G |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,728 (GRCm39) |
F1010I |
probably damaging |
Het |
| Tap1 |
A |
G |
17: 34,412,163 (GRCm39) |
E456G |
probably damaging |
Het |
| Tha1 |
A |
T |
11: 117,759,493 (GRCm39) |
V332E |
probably damaging |
Het |
| Tmem18 |
T |
A |
12: 30,638,517 (GRCm39) |
I93N |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,711,767 (GRCm39) |
F2664S |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,981,011 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,255,351 (GRCm39) |
E1615G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,540,747 (GRCm39) |
T485A |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,886 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,575 (GRCm39) |
D184G |
unknown |
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 |
|
R6748:Aff3
|
UTSW |
1 |
38,574,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAGTGCTCCTGGAAGAAGAG -3'
(R):5'- ACCAAACCCTTGCAGTTATGAC -3'
Sequencing Primer
(F):5'- TGCTCCTGGAAGAAGAGAGGTAG -3'
(R):5'- GCAGTTATGACTAATTCCATGCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation