Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Hax1'

501695

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

044110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R5913 (G1)

Quality Score

217

Status

Validated

Chromosome

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] [ENSMUST00000197725] [ENSMUST00000197767] [ENSMUST00000197786] [ENSMUST00000198782] [ENSMUST00000199740] [ENSMUST00000199163] [ENSMUST00000198322] [ENSMUST00000199050]

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 benign
Transcript: ENSMUST00000079724

SMART Domains

Protein: ENSMUSP00000078661
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	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

noncoding transcript
Transcript: ENSMUST00000197481

Predicted Effect

probably benign
Transcript: ENSMUST00000197725

SMART Domains

Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944

Domain	Start	End	E-Value	Type
low complexity region	119	131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197767

SMART Domains

Protein: ENSMUSP00000142445
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	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: ENSMUST00000198782

SMART Domains

Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944

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: ENSMUST00000199740

SMART Domains

Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000200301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Predicted Effect

probably benign
Transcript: ENSMUST00000199163

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 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly damaging	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
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
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'- ATTCACACACCAGGAGAGTGG -3'
(R):5'- GAAACCAGATCTCCTGTGTTTTCAG -3'

Sequencing Primer
(F):5'- AAGGCAAGGTCCAGGCC -3'
(R):5'- GTGTTTTCAGCTGCCCAGAC -3'

Posted On

2017-12-01