Mutagenetix > Incidental Mutation

Incidental Mutation 'R4397:Hcls1'

325563

Institutional Source

Beutler Lab

Gene Symbol

Hcls1

Ensembl Gene

ENSMUSG00000022831

Gene Name

hematopoietic cell specific Lyn substrate 1

Synonyms

HS1

MMRRC Submission

041685-MU

Accession Numbers

Essential gene?

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

Stock #

R4397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36755345-36783574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36757662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 5 (V5A)

Ref Sequence

ENSEMBL: ENSMUSP00000023531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023531] [ENSMUST00000039855] [ENSMUST00000114812] [ENSMUST00000164050]

AlphaFold

P49710

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023531
AA Change: V5A

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: V5A

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: ENSMUST00000039855

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	7.47e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
coiled coil region	130	219	N/A	INTRINSIC
low complexity region	491	512	N/A	INTRINSIC
internal_repeat_3	519	558	7.47e-6	PROSPERO
coiled coil region	563	594	N/A	INTRINSIC
internal_repeat_4	627	661	3.38e-5	PROSPERO
coiled coil region	679	1121	N/A	INTRINSIC
coiled coil region	1153	1240	N/A	INTRINSIC
internal_repeat_4	1253	1288	3.38e-5	PROSPERO
low complexity region	1300	1314	N/A	INTRINSIC
internal_repeat_1	1321	1352	3.51e-6	PROSPERO
low complexity region	1357	1369	N/A	INTRINSIC
coiled coil region	1402	1755	N/A	INTRINSIC
internal_repeat_2	1760	1798	7.47e-6	PROSPERO
internal_repeat_3	1761	1804	7.47e-6	PROSPERO
coiled coil region	1818	2034	N/A	INTRINSIC
low complexity region	2291	2306	N/A	INTRINSIC
internal_repeat_1	2351	2382	3.51e-6	PROSPERO
low complexity region	2400	2418	N/A	INTRINSIC
low complexity region	2538	2549	N/A	INTRINSIC
coiled coil region	2775	2827	N/A	INTRINSIC
coiled coil region	2854	2943	N/A	INTRINSIC
low complexity region	2964	2976	N/A	INTRINSIC
coiled coil region	3007	3057	N/A	INTRINSIC
coiled coil region	3117	3163	N/A	INTRINSIC
transmembrane domain	3215	3237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114812

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	6.71e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	143	154	N/A	INTRINSIC
low complexity region	200	219	N/A	INTRINSIC
low complexity region	450	471	N/A	INTRINSIC
internal_repeat_3	478	517	6.71e-6	PROSPERO
coiled coil region	522	553	N/A	INTRINSIC
internal_repeat_4	586	620	3.05e-5	PROSPERO
coiled coil region	638	1080	N/A	INTRINSIC
coiled coil region	1112	1199	N/A	INTRINSIC
internal_repeat_4	1212	1247	3.05e-5	PROSPERO
low complexity region	1259	1273	N/A	INTRINSIC
internal_repeat_1	1280	1311	3.14e-6	PROSPERO
low complexity region	1316	1328	N/A	INTRINSIC
coiled coil region	1361	1714	N/A	INTRINSIC
internal_repeat_2	1719	1757	6.71e-6	PROSPERO
internal_repeat_3	1720	1763	6.71e-6	PROSPERO
coiled coil region	1777	1993	N/A	INTRINSIC
low complexity region	2250	2265	N/A	INTRINSIC
internal_repeat_1	2310	2341	3.14e-6	PROSPERO
low complexity region	2359	2377	N/A	INTRINSIC
low complexity region	2497	2508	N/A	INTRINSIC
coiled coil region	2734	2786	N/A	INTRINSIC
coiled coil region	2813	2902	N/A	INTRINSIC
low complexity region	2923	2935	N/A	INTRINSIC
coiled coil region	2966	3016	N/A	INTRINSIC
coiled coil region	3076	3122	N/A	INTRINSIC
transmembrane domain	3174	3196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164050
AA Change: V5A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831
AA Change: V5A

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (55/57)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	T	G	X: 55,977,703 (GRCm39)	L2193V	probably damaging	Het
Agap2	G	A	10: 126,926,352 (GRCm39)	A866T	unknown	Het
Aig1	A	C	10: 13,528,726 (GRCm39)	S237A	probably benign	Het
Baz1b	C	T	5: 135,273,300 (GRCm39)	R1475W	probably damaging	Het
Bmp1	C	T	14: 70,727,982 (GRCm39)		probably null	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dnajc15	T	C	14: 78,112,234 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,320,525 (GRCm39)	H1334L	probably benign	Het
Fancg	A	T	4: 43,008,897 (GRCm39)	H113Q	probably benign	Het
Gfap	G	A	11: 102,787,810 (GRCm39)	A45V	probably benign	Het
Gjd3	A	T	11: 98,873,247 (GRCm39)	L199Q	probably damaging	Het
Gvin-ps3	A	G	7: 105,682,130 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,519,472 (GRCm39)	D65G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Iqgap3	T	C	3: 88,011,665 (GRCm39)	Y817H	probably damaging	Het
Iqsec2	C	T	X: 150,992,049 (GRCm39)	T562I	probably damaging	Het
Klb	A	G	5: 65,537,382 (GRCm39)	Y904C	probably damaging	Het
Kremen1	A	T	11: 5,149,610 (GRCm39)	S354T	probably benign	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lrp4	T	C	2: 91,342,015 (GRCm39)	V1876A	probably benign	Het
Magi3	T	C	3: 104,127,030 (GRCm39)	T85A	probably damaging	Het
Map3k12	C	T	15: 102,409,694 (GRCm39)	A694T	probably benign	Het
Mex3b	T	C	7: 82,519,031 (GRCm39)	S449P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,622,771 (GRCm39)		probably null	Het
Nlrp1a	T	G	11: 70,988,030 (GRCm39)	M1046L	probably benign	Het
Nphs1	T	G	7: 30,181,390 (GRCm39)		probably null	Het
Nup133	G	A	8: 124,671,040 (GRCm39)	T119M	probably benign	Het
Or6c201	G	T	10: 128,969,450 (GRCm39)	N62K	possibly damaging	Het
Pcdhga9	A	T	18: 37,871,694 (GRCm39)	I508F	probably damaging	Het
Phactr3	A	G	2: 177,817,199 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,943,193 (GRCm39)	K155E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psg16	T	C	7: 16,824,623 (GRCm39)	S45P	possibly damaging	Het
Ptpn21	G	T	12: 98,654,507 (GRCm39)	P820Q	probably damaging	Het
Ptpn21	A	G	12: 98,681,319 (GRCm39)	V105A	probably damaging	Het
Rnf7	A	G	9: 96,360,463 (GRCm39)	M58T	probably benign	Het
Slc25a11	G	A	11: 70,535,677 (GRCm39)	A287V	probably benign	Het
Slit2	G	T	5: 48,377,423 (GRCm39)		probably null	Het
Suco	A	G	1: 161,672,421 (GRCm39)	Y460H	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Trpv6	A	G	6: 41,602,172 (GRCm39)	I379T	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,513,901 (GRCm39)	E585G	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,435 (GRCm39)	D549V	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
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
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'- CCCAACACTTTGACAGAGGTTG -3'
(R):5'- GTTTTGCCAATCCAACCCAC -3'

Sequencing Primer
(F):5'- CAGAGGTTGTCTTGTGTTACCTACAC -3'
(R):5'- CCACAAAGACTGTCTTAATCTCAG -3'

Posted On

2015-07-06