Incidental Mutation 'R6054:Hax1'
ID 484288
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 044222-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6054 (G1)
Quality Score 217.468
Status Not validated
Chromosome 3
Chromosomal Location 89902753-89906023 bp(-) (GRCm39)
Type of Mutation small insertion (1 aa in frame mutation)
DNA Base Change (assembly) GTCATCATCATCATCATC to GTCATCATCATCATCATCATC at 89905247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143557 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000079724] [ENSMUST00000196843] [ENSMUST00000197432] [ENSMUST00000197767] [ENSMUST00000197786] [ENSMUST00000198782] [ENSMUST00000199740] [ENSMUST00000197725] [ENSMUST00000199163] [ENSMUST00000198322] [ENSMUST00000199050]
AlphaFold O35387
Predicted Effect probably benign
Transcript: ENSMUST00000029553
SMART Domains Protein: ENSMUSP00000029553
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000079724
SMART Domains Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197481
Predicted Effect probably benign
Transcript: ENSMUST00000197767
SMART Domains Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000198782
SMART Domains Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199740
SMART Domains Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
SCOP:d1qbkb_ 4 18 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199014
Predicted Effect probably benign
Transcript: ENSMUST00000197725
SMART Domains Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944

DomainStartEndE-ValueType
low complexity region 119 131 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199163
Predicted Effect probably benign
Transcript: ENSMUST00000198322
SMART Domains Protein: ENSMUSP00000142524
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000199050
SMART Domains Protein: ENSMUSP00000142719
Gene: ENSMUSG00000042520

DomainStartEndE-ValueType
low complexity region 43 56 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200320
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 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.] 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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,653,729 (GRCm39) S93P unknown Het
Adam28 T A 14: 68,879,601 (GRCm39) N149I probably benign Het
Adam4 A C 12: 81,466,828 (GRCm39) F598V probably damaging Het
Adh5 A G 3: 138,151,136 (GRCm39) H33R possibly damaging Het
Apoh A G 11: 108,286,801 (GRCm39) N75S probably damaging Het
Arrdc5 T C 17: 56,601,420 (GRCm39) E235G possibly damaging Het
Atm T C 9: 53,371,173 (GRCm39) D2225G probably damaging Het
Atp6v0a1 C T 11: 100,930,715 (GRCm39) P514L possibly damaging Het
Brd9 T A 13: 74,088,860 (GRCm39) M195K probably damaging Het
Cacna1a T G 8: 85,283,414 (GRCm39) S755A probably damaging Het
Ccdc85c T A 12: 108,241,028 (GRCm39) H122L unknown Het
Ccs A T 19: 4,875,893 (GRCm39) D192E probably benign Het
Cd3e G A 9: 44,913,459 (GRCm39) T92M possibly damaging Het
Celsr2 A G 3: 108,314,279 (GRCm39) F1249L possibly damaging Het
Col16a1 G A 4: 129,955,515 (GRCm39) probably benign Het
Col17a1 A G 19: 47,668,859 (GRCm39) Y122H probably damaging Het
Col28a1 G A 6: 8,083,748 (GRCm39) P570S possibly damaging Het
Dchs2 A T 3: 83,253,543 (GRCm39) I2318L probably benign Het
Dhx35 T A 2: 158,660,219 (GRCm39) Y184N probably benign Het
Dmxl1 T G 18: 49,990,453 (GRCm39) N297K probably benign Het
Dsp G A 13: 38,351,585 (GRCm39) G135S probably benign Het
Efhb C T 17: 53,706,027 (GRCm39) V837I possibly damaging Het
Efs C T 14: 55,158,614 (GRCm39) D15N probably damaging Het
Fbxl19 C T 7: 127,351,681 (GRCm39) T314I probably damaging Het
Gm11595 A T 11: 99,663,474 (GRCm39) C69S unknown Het
Grxcr2 A G 18: 42,119,743 (GRCm39) V199A probably benign Het
Hadha T C 5: 30,328,682 (GRCm39) E468G probably benign Het
Hps1 A T 19: 42,759,217 (GRCm39) V125E probably damaging Het
Hrg A T 16: 22,772,412 (GRCm39) T74S probably benign Het
Idh3a T C 9: 54,493,829 (GRCm39) probably null Het
Leng8 C A 7: 4,148,522 (GRCm39) probably null Het
Maml2 TCAGCAGCAGCAGCAGCAGC TCAGCAGCAGCAGCAGC 9: 13,532,695 (GRCm39) probably benign Het
Mctp2 T C 7: 71,908,851 (GRCm39) H154R probably benign Het
Megf6 A G 4: 154,347,636 (GRCm39) E777G probably benign Het
Miip A G 4: 147,950,135 (GRCm39) S154P probably benign Het
Mprip T C 11: 59,649,251 (GRCm39) V985A probably benign Het
Nmrk2 G A 10: 81,035,468 (GRCm39) R158W probably damaging Het
Nsd2 T C 5: 34,039,505 (GRCm39) S180P probably damaging Het
Oga A G 19: 45,764,571 (GRCm39) S190P probably damaging Het
Opa1 T G 16: 29,433,952 (GRCm39) S596A probably damaging Het
Or1ad1 G A 11: 50,875,631 (GRCm39) M34I probably benign Het
Or51b4 A G 7: 103,531,033 (GRCm39) V139A probably damaging Het
Pcdha2 A G 18: 37,073,857 (GRCm39) E496G probably damaging Het
Pcdhb5 T G 18: 37,454,133 (GRCm39) V171G probably damaging Het
Pramel6 A G 2: 87,339,003 (GRCm39) T68A probably benign Het
Ptprq T C 10: 107,418,219 (GRCm39) Y1719C probably damaging Het
Pzp T C 6: 128,490,727 (GRCm39) N412S probably benign Het
Rb1cc1 G T 1: 6,320,058 (GRCm39) R1159L probably benign Het
Rev3l T A 10: 39,700,146 (GRCm39) S1548T probably benign Het
Rora A G 9: 69,286,084 (GRCm39) I471M probably benign Het
Scube1 C A 15: 83,535,877 (GRCm39) V266L probably benign Het
Sema6a C T 18: 47,416,470 (GRCm39) D386N possibly damaging Het
Siglecf T A 7: 43,004,430 (GRCm39) L253Q probably damaging Het
Spata31d1b A G 13: 59,863,464 (GRCm39) H204R probably benign Het
Syt17 T C 7: 118,007,356 (GRCm39) T313A possibly damaging Het
Tbc1d32 T C 10: 56,038,304 (GRCm39) T578A possibly damaging Het
Trpm1 A G 7: 63,918,450 (GRCm39) S597G probably benign Het
Vmn2r9 T A 5: 108,996,126 (GRCm39) H174L probably damaging Het
Vrk2 A T 11: 26,436,975 (GRCm39) S281T probably benign Het
Wdr48 A G 9: 119,736,843 (GRCm39) D22G probably damaging Het
Zfp408 C A 2: 91,479,636 (GRCm39) V61L probably benign Het
Zfp652 G A 11: 95,640,689 (GRCm39) A205T probably benign Het
Other mutations in Hax1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6857:Hax1 UTSW 3 89,904,759 (GRCm39) missense probably damaging 0.99
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'- TTCACACACCAGGAGAGTGG -3'
(R):5'- CTGAAACCAGATCTCCTGTGTTTTC -3'

Sequencing Primer
(F):5'- AAGGCAAGGTCCAGGCC -3'
(R):5'- GTGTTTTCAGCTGCCCAGAC -3'
Posted On 2017-07-14