Incidental Mutation 'R6857:Hax1'
| ID |
535300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hax1
|
| Ensembl Gene |
ENSMUSG00000027944 |
| Gene Name |
HCLS1 associated X-1 |
| Synonyms |
Silg111, Hs1bp1, HAX-1, mHAX-1s, HS1-associated protein X-1 |
| MMRRC Submission |
044959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R6857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89902753-89906023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 89904759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 122
(S122R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029553]
[ENSMUST00000064639]
[ENSMUST00000079724]
[ENSMUST00000196843]
[ENSMUST00000197432]
[ENSMUST00000197725]
[ENSMUST00000197767]
[ENSMUST00000197786]
[ENSMUST00000198322]
[ENSMUST00000198782]
[ENSMUST00000199050]
[ENSMUST00000199163]
[ENSMUST00000199740]
|
| AlphaFold |
O35387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029553
|
| SMART Domains |
Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
UBA
|
50 |
88 |
1.31e-9 |
SMART |
|
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
|
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064639
|
| SMART Domains |
Protein: ENSMUSP00000066138
Gene: ENSMUSG00000042520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
UBA
|
50 |
88 |
1.31e-9 |
SMART |
|
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
489 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
520 |
551 |
4.1e-18 |
PFAM |
|
low complexity region
|
559 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
750 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1043 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1077 |
1092 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079724
AA Change: S148R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944
AA Change: S148R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196843
|
| SMART Domains |
Protein: ENSMUSP00000143459
Gene: ENSMUSG00000042520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
UBA
|
50 |
88 |
1.31e-9 |
SMART |
|
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
514 |
546 |
4e-22 |
PFAM |
|
low complexity region
|
554 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1051 |
N/A |
INTRINSIC |
|
low complexity region
|
1072 |
1087 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197432
|
| SMART Domains |
Protein: ENSMUSP00000143136
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197725
AA Change: S19R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944
AA Change: S19R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197767
AA Change: S145R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944
AA Change: S145R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197786
|
| SMART Domains |
Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198322
|
| SMART Domains |
Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
UBA
|
50 |
88 |
1.31e-9 |
SMART |
|
low complexity region
|
124 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
464 |
N/A |
INTRINSIC |
|
Pfam:DUF3697
|
494 |
526 |
4.1e-22 |
PFAM |
|
low complexity region
|
534 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
896 |
N/A |
INTRINSIC |
|
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198782
AA Change: S122R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944
AA Change: S122R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199050
|
| SMART Domains |
Protein: ENSMUSP00000142719
Gene: ENSMUSG00000042520
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199163
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199740
|
| SMART Domains |
Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
4 |
18 |
4e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age. Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
| Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
| Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
| Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
| Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
| Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
| Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
| Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
| Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
| Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
| Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
| Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
| Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
| Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
| Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
| Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Tcf3 |
T |
C |
10: 80,252,733 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
| Ugt2b37 |
C |
G |
5: 87,388,705 (GRCm39) |
A503P |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
| Wdr72 |
G |
T |
9: 74,062,323 (GRCm39) |
V490L |
probably damaging |
Het |
| Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,375,096 (GRCm39) |
V785E |
probably damaging |
Het |
| Zswim7 |
A |
T |
11: 62,171,955 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hax1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03355:Hax1
|
APN |
3 |
89,904,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0848:Hax1
|
UTSW |
3 |
89,902,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Hax1
|
UTSW |
3 |
89,903,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Hax1
|
UTSW |
3 |
89,903,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Hax1
|
UTSW |
3 |
89,902,997 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4604:Hax1
|
UTSW |
3 |
89,904,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5354:Hax1
|
UTSW |
3 |
89,905,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5704:Hax1
|
UTSW |
3 |
89,903,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Hax1
|
UTSW |
3 |
89,903,035 (GRCm39) |
unclassified |
probably benign |
|
|
R5905:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R5913:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R5914:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R5973:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R5978:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R6026:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R6028:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R6035:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R6035:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R6054:Hax1
|
UTSW |
3 |
89,905,247 (GRCm39) |
small insertion |
probably benign |
|
|
R7308:Hax1
|
UTSW |
3 |
89,905,873 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8765:Hax1
|
UTSW |
3 |
89,904,780 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9132:Hax1
|
UTSW |
3 |
89,903,127 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9159:Hax1
|
UTSW |
3 |
89,903,127 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATCCAGAGGCAGGCAGATATC -3'
(R):5'- AAATGTTTAAGGCCTTTCCTATCCC -3'
Sequencing Primer
(F):5'- TCCAGAGGCAGGCAGATATCTAAATC -3'
(R):5'- AAGGCCTTTCCTATCCCAGAATC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation