Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Hax1'

567374

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

045323-MU

Accession Numbers

Essential gene?

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

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89902753-89906023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89905873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 5 (D5E)

Ref Sequence

ENSEMBL: ENSMUSP00000078661 (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

possibly damaging
Transcript: ENSMUST00000079724
AA Change: D5E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944
AA Change: D5E

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 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

possibly damaging
Transcript: ENSMUST00000197767
AA Change: D5E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944
AA Change: D5E

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 damaging
Transcript: ENSMUST00000197786
AA Change: D5E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944
AA Change: D5E

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 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: 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

unknown
Transcript: ENSMUST00000199163
AA Change: D5E

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: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,022,993 (GRCm39)	I43T	probably benign	Het
Ankar	G	A	1: 72,690,953 (GRCm39)	Q1175*	probably null	Het
Aqr	G	A	2: 113,934,543 (GRCm39)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 79,862,392 (GRCm39)		probably null	Het
Atf7ip	T	A	6: 136,542,087 (GRCm39)	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,795,464 (GRCm39)		probably benign	Het
Bcar3	T	A	3: 122,302,142 (GRCm39)	V279E	probably benign	Het
Cd96	C	T	16: 45,892,097 (GRCm39)		probably null	Het
Cdca2	G	A	14: 67,932,440 (GRCm39)	P488S	probably benign	Het
Cfhr4	A	G	1: 139,682,041 (GRCm39)	V185A	possibly damaging	Het
Col4a2	T	G	8: 11,456,856 (GRCm39)		probably null	Het
Cyp4a12a	A	G	4: 115,184,955 (GRCm39)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,176,395 (GRCm39)	S29G	probably benign	Het
Dnah11	A	G	12: 117,959,010 (GRCm39)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,631,596 (GRCm39)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,206,015 (GRCm39)	H84L	probably benign	Het
Enah	A	T	1: 181,733,950 (GRCm39)		probably null	Het
Fam178b	G	T	1: 36,698,488 (GRCm39)	Q78K	probably benign	Het
Glb1	A	G	9: 114,302,931 (GRCm39)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,956,429 (GRCm39)	H132Y	probably benign	Het
Gm5799	A	G	14: 43,781,164 (GRCm39)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,755,669 (GRCm39)	D617G	possibly damaging	Het
Hic1	A	G	11: 75,057,977 (GRCm39)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,823,647 (GRCm39)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,469,866 (GRCm39)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,157,930 (GRCm39)	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,224,730 (GRCm39)	H497L	probably benign	Het
Kcnma1	C	T	14: 23,381,003 (GRCm39)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,790,475 (GRCm39)	F479S	possibly damaging	Het
Krba1	T	C	6: 48,383,273 (GRCm39)	V203A	probably benign	Het
Lct	G	T	1: 128,246,824 (GRCm39)	P233Q	probably benign	Het
Ly75	T	C	2: 60,164,859 (GRCm39)	D773G	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Man1a2	A	T	3: 100,527,421 (GRCm39)	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Myof	A	T	19: 37,899,359 (GRCm39)	S1800R	probably damaging	Het
Nbea	A	C	3: 55,998,452 (GRCm39)	C118W	probably damaging	Het
Nsd3	A	T	8: 26,130,740 (GRCm39)	D35V	probably damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Or11g24	G	A	14: 50,662,722 (GRCm39)	V249I	possibly damaging	Het
Or2y1c	G	A	11: 49,360,754 (GRCm39)		probably benign	Het
Pcnx3	C	T	19: 5,736,175 (GRCm39)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,159,007 (GRCm39)	P462L	probably benign	Het
Pdia5	T	G	16: 35,276,879 (GRCm39)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 115,973,074 (GRCm39)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,579,806 (GRCm39)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 94,895,397 (GRCm39)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,386,125 (GRCm39)	A669V	probably benign	Het
Rdx	A	T	9: 51,980,170 (GRCm39)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,705,294 (GRCm39)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,534,006 (GRCm39)	S1118T	probably benign	Het
Slf1	G	A	13: 77,199,287 (GRCm39)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,801,602 (GRCm39)	E2338G	probably benign	Het
Taok3	T	A	5: 117,338,216 (GRCm39)	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,816,212 (GRCm39)	L649F	probably damaging	Het
Tdpoz8	A	G	3: 92,981,872 (GRCm39)	T223A	probably benign	Het
Tmem132b	A	T	5: 125,864,710 (GRCm39)	I939F	possibly damaging	Het
Trav17	T	A	14: 54,044,436 (GRCm39)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,388,388 (GRCm39)	D16G	probably benign	Het
Upf2	T	A	2: 5,978,329 (GRCm39)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm39)	T180A	probably benign	Het
Zfp738	A	T	13: 67,817,672 (GRCm39)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,041,080 (GRCm39)	M264K	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
R6857:Hax1	UTSW	3	89,904,759 (GRCm39)	missense	probably damaging	0.99
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'- GAAAGCTGCCGTTTCTGTCC -3'
(R):5'- GGCTTACGACTTTTACGACAAC -3'

Sequencing Primer
(F):5'- AACCACTGCTTTGATTACTGTGG -3'
(R):5'- GACTTTTACGACAACGCCGC -3'

Posted On

2019-06-26