Mutagenetix > Incidental Mutation

Incidental Mutation 'R5973:Hax1'

501684

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

044156-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R5973 (G1)

Quality Score

217

Status

Not 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: 99.5%
10x: 97.5%
20x: 92.3%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,364,928 (GRCm39)	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,741,162 (GRCm39)	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc7	A	T	5: 122,566,366 (GRCm39)	T92S	probably benign	Het
Ash2l	G	A	8: 26,307,642 (GRCm39)	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,243,931 (GRCm39)	F1495L	probably damaging	Het
Atp5pf	T	C	16: 84,625,328 (GRCm39)		probably null	Het
Bcl2a1c	A	G	9: 114,159,465 (GRCm39)	N81S	probably benign	Het
Bfsp2	A	C	9: 103,309,856 (GRCm39)		probably null	Het
Casq1	A	G	1: 172,047,068 (GRCm39)	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,590,262 (GRCm39)	V227A	probably damaging	Het
Cers6	T	A	2: 68,898,969 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,686,671 (GRCm39)		probably benign	Het
Clpb	G	A	7: 101,313,204 (GRCm39)	V63I	probably benign	Het
Dnah11	G	T	12: 118,074,687 (GRCm39)	D1388E	probably benign	Het
Dst	T	C	1: 34,195,938 (GRCm39)	L405P	probably damaging	Het
Dstyk	A	G	1: 132,362,149 (GRCm39)	E193G	probably damaging	Het
Dusp2	A	T	2: 127,179,208 (GRCm39)	S188C	probably damaging	Het
Ep400	T	C	5: 110,877,697 (GRCm39)	I810V	unknown	Het
Faim2	C	T	15: 99,419,132 (GRCm39)	G79D	probably benign	Het
Fpgt	A	T	3: 154,793,040 (GRCm39)	I329K	probably damaging	Het
Fut8	A	G	12: 77,411,771 (GRCm39)	T78A	probably benign	Het
Gm15130	A	G	2: 110,965,714 (GRCm39)		probably benign	Het
Gm17087	A	C	17: 8,785,529 (GRCm39)	I58R	probably benign	Het
Grk2	T	C	19: 4,337,925 (GRCm39)	D485G	possibly damaging	Het
Hmcn1	A	G	1: 150,439,568 (GRCm39)	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,310,335 (GRCm39)	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,161 (GRCm39)	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,345,806 (GRCm39)	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,427,306 (GRCm39)	V192M	probably damaging	Het
Krt1c	T	C	15: 101,724,747 (GRCm39)	K288E	probably damaging	Het
Lyar	A	G	5: 38,385,290 (GRCm39)	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,726,961 (GRCm39)	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,690,533 (GRCm39)	D40G	probably benign	Het
Maml2	A	C	9: 13,532,915 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,162,401 (GRCm39)	H69R	probably benign	Het
Morc2b	G	T	17: 33,356,446 (GRCm39)	A442E	probably damaging	Het
Moxd2	A	T	6: 40,855,744 (GRCm39)	L615Q	probably damaging	Het
Msh2	G	A	17: 88,016,011 (GRCm39)	G548S	probably damaging	Het
Napg	G	A	18: 63,128,054 (GRCm39)	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,240,136 (GRCm39)		probably null	Het
Nkiras2	G	T	11: 100,516,866 (GRCm39)	R128L	probably damaging	Het
Npy4r	T	C	14: 33,868,664 (GRCm39)	D208G	probably benign	Het
Or10ak11	C	T	4: 118,687,413 (GRCm39)	V75I	probably benign	Het
Or52e2	A	G	7: 102,804,081 (GRCm39)	V291A	possibly damaging	Het
Or8b42	G	T	9: 38,341,627 (GRCm39)	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,560 (GRCm39)	T184A	probably benign	Het
Plxna4	T	C	6: 32,228,000 (GRCm39)		probably null	Het
Pnldc1	C	T	17: 13,113,260 (GRCm39)	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334 (GRCm39)	L55F	probably damaging	Het
Pramel51	T	C	12: 88,142,683 (GRCm39)	I312V	probably benign	Het
Prkci	G	T	3: 31,092,605 (GRCm39)	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,435,038 (GRCm39)	H563R	probably damaging	Het
Ptpru	T	C	4: 131,546,236 (GRCm39)	N266S	probably benign	Het
Rapgef6	A	T	11: 54,530,609 (GRCm39)	I589F	probably damaging	Het
Rcan3	A	T	4: 135,145,853 (GRCm39)	S127T	probably benign	Het
Sh3tc2	A	G	18: 62,110,975 (GRCm39)	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,098,949 (GRCm39)	A440V	probably benign	Het
Slc13a2	A	C	11: 78,291,358 (GRCm39)	I372S	probably damaging	Het
Slco1a7	T	A	6: 141,700,182 (GRCm39)	T117S	probably benign	Het
Spns1	A	T	7: 125,969,495 (GRCm39)	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,736,021 (GRCm39)	K191R	probably benign	Het
Swt1	A	G	1: 151,278,700 (GRCm39)		probably null	Het
Tcn2	A	T	11: 3,877,546 (GRCm39)	L34*	probably null	Het
Tmem131l	C	T	3: 83,829,553 (GRCm39)	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,223,263 (GRCm39)	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,254,642 (GRCm39)	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,455,192 (GRCm39)	V48G	possibly damaging	Het
Vps39	A	T	2: 120,159,186 (GRCm39)	H367Q	probably damaging	Het
Wars2	A	G	3: 99,094,962 (GRCm39)	T86A	probably benign	Het
Wdr90	A	G	17: 26,064,107 (GRCm39)	S1872P	probably damaging	Het
Wdr90	A	G	17: 26,065,381 (GRCm39)	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,194,256 (GRCm39)	M46L	probably damaging	Het
Zfp1005	A	G	2: 150,109,855 (GRCm39)	T182A	unknown	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
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'- AAATTCACACACCAGGAGAGTG -3'
(R):5'- ACCAGATCTCCTGTGTTTTCAG -3'

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

Posted On

2017-12-01