Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Hcls1'

384630

Institutional Source

Beutler Lab

Gene Symbol

Hcls1

Ensembl Gene

ENSMUSG00000022831

Gene Name

hematopoietic cell specific Lyn substrate 1

Synonyms

HS1

MMRRC Submission

042573-MU

Accession Numbers

Essential gene?

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

Stock #

R4978 (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 36758222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 38 (W38R)

Ref Sequence

ENSEMBL: ENSMUSP00000023531 (fasta)

Gene Model

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

AlphaFold

P49710

Predicted Effect

probably damaging
Transcript: ENSMUST00000023531
AA Change: W38R

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

SMART Domains

Protein: ENSMUSP00000023531
Gene: ENSMUSG00000022831
AA Change: W38R

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 damaging
Transcript: ENSMUST00000164050
AA Change: W38R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127186
Gene: ENSMUSG00000022831
AA Change: W38R

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

0.9379

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adam39	T	C	8: 41,278,374 (GRCm39)	I255T	possibly damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Limk2	G	T	11: 3,359,069 (GRCm39)		probably benign	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Or52x1	T	C	7: 104,853,398 (GRCm39)	I51V	probably benign	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Umodl1	T	C	17: 31,205,055 (GRCm39)	I550T	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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'- AGGACATGTCTAGGATCACTGG -3'
(R):5'- AGCCATAGGAATACTAGGTACACAG -3'

Sequencing Primer
(F):5'- CATGTGGCTTTGAGATAAATGCAGC -3'
(R):5'- TAGGAATACTAGGTACACAGAGATTC -3'

Posted On

2016-05-10