Mutagenetix > Incidental Mutation

Incidental Mutation 'R8040:Hcls1'

618490

Institutional Source

Beutler Lab

Gene Symbol

Hcls1

Ensembl Gene

ENSMUSG00000022831

Gene Name

hematopoietic cell specific Lyn substrate 1

Synonyms

HS1

MMRRC Submission

067477-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

R8040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36755345-36783574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36771511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

Ref Sequence

ENSEMBL: ENSMUSP00000023531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000164050]

AlphaFold

P49710

Predicted Effect

probably damaging
Transcript: ENSMUST00000023531
AA Change: D139G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: D139G

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	82	117	6.6e-23	PFAM
Pfam:HS1_rep	119	154	1.2e-23	PFAM
Pfam:HS1_rep	156	191	3.3e-21	PFAM
Pfam:HS1_rep	193	220	2.1e-14	PFAM
coiled coil region	238	273	N/A	INTRINSIC
low complexity region	358	390	N/A	INTRINSIC
SH3	432	486	1.2e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164050

SMART Domains

Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831

Domain	Start	End	E-Value	Type
Pfam:HS1_rep	82	118	6e-24	PFAM
Pfam:HS1_rep	119	136	1.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show impaired antibody production to T-independent antigen and impaired proliferative responses of splenic B and T cells after cross-linking of antigen receptors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,765,035 (GRCm39)	D675V	probably benign	Het
Adam21	T	C	12: 81,607,211 (GRCm39)	R184G	probably benign	Het
Adcy10	A	G	1: 165,379,593 (GRCm39)	K952E	probably damaging	Het
Allc	A	T	12: 28,605,351 (GRCm39)	I316N	probably damaging	Het
Ano8	T	C	8: 71,934,812 (GRCm39)	T432A	probably benign	Het
Cadps2	C	A	6: 23,412,942 (GRCm39)		probably benign	Het
Camsap2	T	C	1: 136,208,985 (GRCm39)	S168G		Het
Ccl19	T	C	4: 42,756,297 (GRCm39)	S12G	probably damaging	Het
Cfap91	A	G	16: 38,140,733 (GRCm39)	S407P	possibly damaging	Het
Cltc	A	G	11: 86,616,031 (GRCm39)	S412P	probably damaging	Het
Cwc25	A	G	11: 97,641,696 (GRCm39)		probably null	Het
Cxcr4	A	G	1: 128,517,535 (GRCm39)	F42S	probably damaging	Het
Cyp4a12a	A	G	4: 115,183,412 (GRCm39)	Q177R	probably benign	Het
Dnal4	T	C	15: 79,646,169 (GRCm39)	T112A	probably benign	Het
Dock9	C	A	14: 121,889,206 (GRCm39)	G304C	probably benign	Het
Evpl	T	C	11: 116,113,758 (GRCm39)	T1311A	probably damaging	Het
Fat4	T	C	3: 39,035,815 (GRCm39)	Y3156H	probably damaging	Het
Golgb1	A	G	16: 36,733,841 (GRCm39)	I1070M	possibly damaging	Het
Ighv1-7	A	G	12: 114,502,390 (GRCm39)	S26P	probably benign	Het
Il1r1	A	T	1: 40,352,509 (GRCm39)	T563S	probably benign	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnk4	A	G	19: 6,904,995 (GRCm39)	Y219H	probably damaging	Het
Kcnt2	G	A	1: 140,377,955 (GRCm39)	A403T	probably damaging	Het
Mdp1	T	A	14: 55,897,523 (GRCm39)	N44I	probably benign	Het
Nceh1	A	G	3: 27,295,374 (GRCm39)	N212D	probably benign	Het
Nynrin	G	A	14: 56,108,982 (GRCm39)	G1363D	probably benign	Het
Or5d20-ps1	T	A	2: 87,931,703 (GRCm39)	R209S	unknown	Het
Or6n1	T	C	1: 173,916,723 (GRCm39)	I39T	possibly damaging	Het
Or6x1	A	G	9: 40,098,717 (GRCm39)	H102R	probably damaging	Het
Or8d1	T	A	9: 38,766,460 (GRCm39)	I34N	probably damaging	Het
Parp2	T	A	14: 51,047,630 (GRCm39)	M47K	probably benign	Het
Pfdn6	T	C	17: 34,158,951 (GRCm39)		probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plb1	T	A	5: 32,430,413 (GRCm39)	H123Q	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Prodh2	A	G	7: 30,205,836 (GRCm39)	D238G	probably damaging	Het
Rad51ap2	T	A	12: 11,508,792 (GRCm39)	S905T	probably benign	Het
Sclt1	C	T	3: 41,611,811 (GRCm39)	R487H	probably damaging	Het
Serpina3b	A	G	12: 104,097,335 (GRCm39)	I205M	probably benign	Het
Sowahb	A	G	5: 93,191,292 (GRCm39)	S476P	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tent4a	A	G	13: 69,648,600 (GRCm39)	Y719H	probably damaging	Het
Tnxb	T	C	17: 34,935,532 (GRCm39)	Y2611H	probably damaging	Het
Uggt1	T	C	1: 36,250,554 (GRCm39)	E237G	possibly damaging	Het
Vmn1r87	T	A	7: 12,866,086 (GRCm39)	Y67F	possibly damaging	Het
Vmn2r107	G	A	17: 20,595,808 (GRCm39)	C787Y	probably damaging	Het
Zscan4-ps3	T	A	7: 11,346,600 (GRCm39)	I212N	probably damaging	Het

Other mutations in Hcls1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Hcls1	APN	16	36,776,383 (GRCm39)	critical splice donor site	probably null
IGL01022:Hcls1	APN	16	36,771,488 (GRCm39)	intron	probably benign
IGL02838:Hcls1	APN	16	36,782,781 (GRCm39)	missense	probably damaging	1.00
R0125:Hcls1	UTSW	16	36,782,525 (GRCm39)	missense	probably benign	0.14
R0137:Hcls1	UTSW	16	36,771,536 (GRCm39)	missense	probably damaging	0.99
R0230:Hcls1	UTSW	16	36,758,216 (GRCm39)	missense	probably damaging	1.00
R0614:Hcls1	UTSW	16	36,782,987 (GRCm39)	missense	probably damaging	1.00
R1897:Hcls1	UTSW	16	36,783,005 (GRCm39)	missense	probably damaging	1.00
R2246:Hcls1	UTSW	16	36,782,984 (GRCm39)	missense	probably damaging	0.97
R4037:Hcls1	UTSW	16	36,776,987 (GRCm39)	missense	possibly damaging	0.74
R4397:Hcls1	UTSW	16	36,757,662 (GRCm39)	missense	possibly damaging	0.50
R4777:Hcls1	UTSW	16	36,775,678 (GRCm39)	missense	probably damaging	1.00
R4978:Hcls1	UTSW	16	36,758,222 (GRCm39)	missense	probably damaging	1.00
R5432:Hcls1	UTSW	16	36,781,910 (GRCm39)	missense	probably benign
R5811:Hcls1	UTSW	16	36,777,702 (GRCm39)	missense	probably null
R6601:Hcls1	UTSW	16	36,782,748 (GRCm39)	missense	probably benign	0.00
R7794:Hcls1	UTSW	16	36,782,426 (GRCm39)	missense	probably damaging	1.00
R8439:Hcls1	UTSW	16	36,767,003 (GRCm39)	missense	probably benign	0.14
R8688:Hcls1	UTSW	16	36,781,821 (GRCm39)	missense	probably benign
R8782:Hcls1	UTSW	16	36,777,663 (GRCm39)	missense	probably benign
R9157:Hcls1	UTSW	16	36,777,000 (GRCm39)	missense	probably benign	0.34
R9313:Hcls1	UTSW	16	36,777,000 (GRCm39)	missense	probably benign	0.34
R9495:Hcls1	UTSW	16	36,777,702 (GRCm39)	missense	probably benign	0.01
Z1176:Hcls1	UTSW	16	36,781,854 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGAGTGACCTTAAGGAATACCCC -3'
(R):5'- AAGAAGCCTGCCCACAATTGG -3'

Sequencing Primer
(F):5'- AGACTAGTCTAGTGTCCAGAGGTCC -3'
(R):5'- TTGGAACCGCAAAGTAGCC -3'

Posted On

2020-01-23