Incidental Mutation 'R6200:Atraid'
ID |
503142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atraid
|
Ensembl Gene |
ENSMUSG00000013622 |
Gene Name |
all-trans retinoic acid induced differentiation factor |
Synonyms |
0610007C21Rik, HSPC013, p18 |
MMRRC Submission |
044340-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R6200 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31205984-31211977 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31210210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 127
(N127D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013766]
[ENSMUST00000013773]
[ENSMUST00000080431]
[ENSMUST00000114668]
[ENSMUST00000200816]
[ENSMUST00000201136]
[ENSMUST00000201773]
[ENSMUST00000202520]
[ENSMUST00000200942]
[ENSMUST00000201174]
[ENSMUST00000201182]
[ENSMUST00000201838]
[ENSMUST00000200953]
[ENSMUST00000202795]
[ENSMUST00000202556]
|
AlphaFold |
Q6PGD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013766
AA Change: N151D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000013766 Gene: ENSMUSG00000013622 AA Change: N151D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
EGF
|
149 |
187 |
2.03e1 |
SMART |
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000013773
|
SMART Domains |
Protein: ENSMUSP00000013773 Gene: ENSMUSG00000013629
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.7e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.2e-15 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.8e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
1.5e-9 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.2e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.8e-23 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
3.1e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
7.4e-12 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1924 |
2065 |
1.9e-44 |
PFAM |
Pfam:OTCace
|
2071 |
2221 |
7.6e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080431
|
SMART Domains |
Protein: ENSMUSP00000079291 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114668
|
SMART Domains |
Protein: ENSMUSP00000110316 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000200748
AA Change: N134D
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200816
|
SMART Domains |
Protein: ENSMUSP00000144665 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201136
AA Change: N98D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144085 Gene: ENSMUSG00000013622 AA Change: N98D
Domain | Start | End | E-Value | Type |
EGF
|
96 |
134 |
2.03e1 |
SMART |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201773
AA Change: N127D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144333 Gene: ENSMUSG00000013622 AA Change: N127D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202520
|
SMART Domains |
Protein: ENSMUSP00000143938 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201182
|
SMART Domains |
Protein: ENSMUSP00000144684 Gene: ENSMUSG00000013629
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.1e-15 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.7e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
1.4e-9 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
2.1e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
1.7e-23 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
3e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
2.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
7.1e-12 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1949 |
1994 |
1.4e-11 |
PFAM |
Pfam:OTCace
|
2000 |
2150 |
7.3e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201838
|
SMART Domains |
Protein: ENSMUSP00000144127 Gene: ENSMUSG00000013629
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
6.3e-48 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
1.9e-16 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
3.7e-86 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
2.5e-10 |
PFAM |
Pfam:Dala_Dala_lig_C
|
526 |
687 |
4.2e-11 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
SCOP:d1a9xa3
|
935 |
964 |
1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200953
|
SMART Domains |
Protein: ENSMUSP00000144307 Gene: ENSMUSG00000013629
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
4.5e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:CPSase_L_D2
|
514 |
616 |
1.5e-34 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
625 |
2.4e-7 |
PFAM |
Pfam:CPSase_L_D2
|
614 |
655 |
4.9e-15 |
PFAM |
CPSase_L_D3
|
735 |
858 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
981 |
1160 |
1.7e-23 |
PFAM |
Pfam:CPSase_L_D2
|
984 |
1187 |
3e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
991 |
1179 |
2.3e-7 |
PFAM |
Pfam:ATP-grasp
|
992 |
1159 |
2.1e-12 |
PFAM |
MGS
|
1264 |
1365 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1399 |
1667 |
7.1e-12 |
PFAM |
low complexity region
|
1757 |
1776 |
N/A |
INTRINSIC |
low complexity region
|
1801 |
1817 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1861 |
2002 |
1.8e-44 |
PFAM |
Pfam:OTCace
|
2008 |
2158 |
7.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202795
|
SMART Domains |
Protein: ENSMUSP00000144009 Gene: ENSMUSG00000013629
Domain | Start | End | E-Value | Type |
CPSase_sm_chain
|
1 |
139 |
8.81e-80 |
SMART |
Pfam:GATase
|
179 |
356 |
1.9e-47 |
PFAM |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
511 |
692 |
5.9e-16 |
PFAM |
Pfam:CPSase_L_D2
|
514 |
718 |
1.2e-85 |
PFAM |
Pfam:ATP-grasp
|
522 |
690 |
7.3e-10 |
PFAM |
Pfam:Dala_Dala_lig_C
|
527 |
687 |
1.3e-10 |
PFAM |
CPSase_L_D3
|
798 |
921 |
9.7e-59 |
SMART |
Pfam:ATP-grasp_4
|
1044 |
1223 |
8.9e-24 |
PFAM |
Pfam:CPSase_L_D2
|
1047 |
1250 |
2.1e-28 |
PFAM |
Pfam:Dala_Dala_lig_C
|
1054 |
1242 |
1.3e-7 |
PFAM |
Pfam:ATP-grasp
|
1055 |
1222 |
1.1e-12 |
PFAM |
MGS
|
1327 |
1428 |
1.35e-7 |
SMART |
Pfam:Amidohydro_1
|
1462 |
1730 |
2.5e-11 |
PFAM |
low complexity region
|
1820 |
1839 |
N/A |
INTRINSIC |
low complexity region
|
1864 |
1880 |
N/A |
INTRINSIC |
Pfam:OTCace_N
|
1970 |
2004 |
4.6e-11 |
PFAM |
Pfam:OTCace
|
2010 |
2160 |
9.9e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202556
|
SMART Domains |
Protein: ENSMUSP00000143993 Gene: ENSMUSG00000006641
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
462 |
7.9e-41 |
PFAM |
low complexity region
|
496 |
506 |
N/A |
INTRINSIC |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
low complexity region
|
562 |
573 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2523 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
91% (32/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009] PHENOTYPE: Mice heterozygous or homozygous for a gene trap mutation exhibit cataracts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
Het |
|
Other mutations in Atraid |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02689:Atraid
|
APN |
5 |
31,209,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Atraid
|
APN |
5 |
31,210,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R0528:Atraid
|
UTSW |
5 |
31,209,796 (GRCm39) |
unclassified |
probably benign |
|
R0682:Atraid
|
UTSW |
5 |
31,209,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R4085:Atraid
|
UTSW |
5 |
31,209,650 (GRCm39) |
unclassified |
probably benign |
|
R5213:Atraid
|
UTSW |
5 |
31,209,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Atraid
|
UTSW |
5 |
31,209,590 (GRCm39) |
nonsense |
probably null |
|
R8121:Atraid
|
UTSW |
5 |
31,211,642 (GRCm39) |
splice site |
probably null |
|
R8756:Atraid
|
UTSW |
5 |
31,211,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTTGTTCTACTCCCGAGC -3'
(R):5'- ATTTGTACATCAAAAGTAGAGGGAAA -3'
Sequencing Primer
(F):5'- GAGCTACACCCCAACCTCTTTG -3'
(R):5'- CCAACTCAGATTGCAGAGTGAGTTC -3'
|
Posted On |
2018-02-27 |