Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Hax1'

77404

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

039027-MU

Accession Numbers

Essential gene?

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

Stock #

R0848 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

89902753-89906023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89902940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 253 (S253P)

Ref Sequence

ENSEMBL: ENSMUSP00000143155 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000079724
AA Change: S279P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078661
Gene: ENSMUSG00000027944
AA Change: S279P

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

possibly damaging
Transcript: ENSMUST00000197432
AA Change: S65P

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143136
Gene: ENSMUSG00000027944
AA Change: S65P

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197481

Predicted Effect

probably damaging
Transcript: ENSMUST00000197725
AA Change: S150P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142741
Gene: ENSMUSG00000027944
AA Change: S150P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197767
AA Change: S276P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142445
Gene: ENSMUSG00000027944
AA Change: S276P

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: ENSMUST00000198782
AA Change: S253P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143155
Gene: ENSMUSG00000027944
AA Change: S253P

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: ENSMUST00000197786
AA Change: S195P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142627
Gene: ENSMUSG00000027944
AA Change: S195P

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

noncoding transcript
Transcript: ENSMUST00000199469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198889

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: ENSMUST00000199740

SMART Domains

Protein: ENSMUSP00000143557
Gene: ENSMUSG00000027944

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Epb41l5	A	T	1: 119,477,684 (GRCm39)	C696S	probably benign	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	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
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
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'- TCAATTTGGATGAATGACAGACTGGCA -3'
(R):5'- ATTTCTCTTGCAGACAGTGGAGGAAC -3'

Sequencing Primer
(F):5'- TGACAGACTGGCATAAGCTC -3'
(R):5'- CCCATGACAGTTCCAGAAGTG -3'

Posted On

2013-10-16