Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:Hcls1'

600148

Institutional Source

Beutler Lab

Gene Symbol

Hcls1

Ensembl Gene

ENSMUSG00000022831

Gene Name

hematopoietic cell specific Lyn substrate 1

Synonyms

HS1

MMRRC Submission

045850-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R7794 (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 36782426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 365 (E365G)

Ref Sequence

ENSEMBL: ENSMUSP00000023531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000075869] [ENSMUST00000114806] [ENSMUST00000164050]

AlphaFold

P49710

Predicted Effect

probably damaging
Transcript: ENSMUST00000023531
AA Change: E365G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: E365G

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: ENSMUST00000075869

SMART Domains

Protein: ENSMUSP00000075266
Gene: ENSMUSG00000047746

Domain	Start	End	E-Value	Type
Pfam:zf-TRAF_2	12	104	6.1e-42	PFAM
Pfam:F-box_4	571	686	1.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114806

SMART Domains

Protein: ENSMUSP00000110454
Gene: ENSMUSG00000047746

Domain	Start	End	E-Value	Type
PDB:2YRE\|A	12	92	1e-27	PDB
SCOP:d1k2fa_	62	97	5e-4	SMART
Blast:FBOX	578	616	1e-8	BLAST

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: 99.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,117,022 (GRCm39)	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,249,697 (GRCm39)	I1083F	probably benign	Het
Acsm5	A	G	7: 119,137,352 (GRCm39)		probably benign	Het
Acyp1	G	T	12: 85,335,053 (GRCm39)	A22E	probably benign	Het
Afdn	C	A	17: 14,102,695 (GRCm39)	A1090E	probably damaging	Het
Ahdc1	T	G	4: 132,791,289 (GRCm39)	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,163,507 (GRCm39)	E602*	probably null	Het
Bora	A	G	14: 99,310,080 (GRCm39)	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,439,959 (GRCm39)	S166T	probably benign	Het
Car13	A	G	3: 14,719,948 (GRCm39)	H120R	probably damaging	Het
Cstf3	G	A	2: 104,420,926 (GRCm39)	⇒1	probably benign	Het
Dip2a	T	C	10: 76,112,459 (GRCm39)	N1080D	probably damaging	Het
Dis3	A	G	14: 99,336,233 (GRCm39)	L91P	probably benign	Het
E2f6	A	G	12: 16,870,370 (GRCm39)	D174G	possibly damaging	Het
Emsy	A	T	7: 98,249,931 (GRCm39)	S785R	probably benign	Het
Fbxl17	A	G	17: 63,663,806 (GRCm39)	I561T	probably damaging	Het
Gabra6	A	T	11: 42,211,868 (GRCm39)		probably null	Het
Gm47996	C	G	1: 151,086,545 (GRCm39)	P209A	possibly damaging	Het
Hoxa6	T	A	6: 52,183,548 (GRCm39)	T166S	possibly damaging	Het
Hydin	A	G	8: 111,235,715 (GRCm39)	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,708,582 (GRCm39)		probably benign	Het
Ifitm7	T	C	16: 13,801,610 (GRCm39)	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,657,811 (GRCm39)	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,541,658 (GRCm39)	H633L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kmt2e	G	A	5: 23,669,714 (GRCm39)	G67D	probably damaging	Het
Kpna6	T	C	4: 129,541,844 (GRCm39)	T518A	probably benign	Het
Marchf11	A	G	15: 26,409,284 (GRCm39)	I328V	probably benign	Het
Mbtps1	A	G	8: 120,265,623 (GRCm39)	I308T	probably damaging	Het
Mug1	A	T	6: 121,833,247 (GRCm39)	D284V	possibly damaging	Het
Myo16	A	G	8: 10,619,913 (GRCm39)	K1488R	unknown	Het
Myom2	G	A	8: 15,133,259 (GRCm39)	G384R	probably damaging	Het
Naa16	A	G	14: 79,614,934 (GRCm39)	Y189H	probably damaging	Het
Nav3	G	A	10: 109,524,717 (GRCm39)	A2304V	probably benign	Het
Or12e10	T	A	2: 87,640,818 (GRCm39)	V218E	probably damaging	Het
Or14c46	T	A	7: 85,918,341 (GRCm39)	I219L	probably damaging	Het
Or14j5	A	T	17: 38,161,678 (GRCm39)	Q65L	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,152,396 (GRCm39)		probably null	Het
Pcdhb20	A	G	18: 37,637,485 (GRCm39)	R4G	probably benign	Het
Poc1b	A	G	10: 98,965,460 (GRCm39)	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,836,683 (GRCm39)	V88A	probably benign	Het
Ptpn13	C	T	5: 103,640,090 (GRCm39)	T183M	probably benign	Het
Ptpn4	T	C	1: 119,653,767 (GRCm39)	E275G	probably damaging	Het
Rab21	A	T	10: 115,134,762 (GRCm39)	L119*	probably null	Het
Rep15	T	A	6: 146,934,638 (GRCm39)	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,515,825 (GRCm39)	E967G	probably benign	Het
Rptn	G	A	3: 93,303,036 (GRCm39)	R123K	probably benign	Het
Scn11a	A	T	9: 119,594,580 (GRCm39)	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,358,153 (GRCm39)	I696N	probably damaging	Het
Slc25a12	T	C	2: 71,141,852 (GRCm39)	E267G	probably damaging	Het
Slc5a4b	A	T	10: 75,898,133 (GRCm39)	M527K	probably benign	Het
Spata31e4	C	G	13: 50,856,344 (GRCm39)	P661A	probably damaging	Het
Speg	T	A	1: 75,365,514 (GRCm39)	S632T	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Synrg	G	T	11: 83,910,400 (GRCm39)	M933I	probably benign	Het
Tmem178b	A	T	6: 40,222,551 (GRCm39)	I89F	probably damaging	Het
Tyr	C	T	7: 87,133,028 (GRCm39)		probably null	Het
Usp30	T	A	5: 114,251,033 (GRCm39)	C237*	probably null	Het
Xpo6	G	T	7: 125,760,035 (GRCm39)	T188K	probably damaging	Het
Zfp382	G	A	7: 29,831,035 (GRCm39)	S108N	possibly damaging	Het
Zfp820	A	C	17: 22,039,109 (GRCm39)	V73G	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
R8040:Hcls1	UTSW	16	36,771,511 (GRCm39)	missense	probably damaging	0.97
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'- ATGAAGAGCAGCCTACTCCC -3'
(R):5'- AAACTTGGGAGCTGCTTTCC -3'

Sequencing Primer
(F):5'- CTCCCAAGGAAAGGCTTTTAAATGG -3'
(R):5'- ATTCACCCCACTCACCAGCTTG -3'

Posted On

2019-11-26