Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Hax1'

423953

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

042933-MU

Accession Numbers

Essential gene?

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

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89902753-89906023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89905262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 34 (D34E)

Ref Sequence

ENSEMBL: ENSMUSP00000142627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029553] [ENSMUST00000064639] [ENSMUST00000079724] [ENSMUST00000196843] [ENSMUST00000197432] [ENSMUST00000197725] [ENSMUST00000199740] [ENSMUST00000197767] [ENSMUST00000197786] [ENSMUST00000198782] [ENSMUST00000199163] [ENSMUST00000199050] [ENSMUST00000198322]

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: D34E

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

SMART Domains

Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944
AA Change: D34E

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

unknown
Transcript: ENSMUST00000199740
AA Change: D8E

SMART Domains

Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944
AA Change: D8E

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	4	18	4e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197767
AA Change: D34E

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

SMART Domains

Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944
AA Change: D34E

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: D34E

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

SMART Domains

Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944
AA Change: D34E

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

unknown
Transcript: ENSMUST00000198782
AA Change: D8E

SMART Domains

Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944
AA Change: D8E

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	222	234	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198889

Predicted Effect

probably benign
Transcript: ENSMUST00000199163

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: 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

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Anxa7	A	G	14: 20,514,977 (GRCm39)	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,209,278 (GRCm39)	Y498C	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,161,646 (GRCm39)	D673E	probably benign	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,108,385 (GRCm39)	I232V	probably benign	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Thbs3	A	G	3: 89,128,684 (GRCm39)	D458G	probably damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	probably 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
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
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'- GAAACCAGATCTCCTGTGTTTTCAG -3'

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

Posted On

2016-08-04