Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:Hspa1l'

379071

Institutional Source

Beutler Lab

Gene Symbol

Hspa1l

Ensembl Gene

ENSMUSG00000007033

Gene Name

heat shock protein 1-like

Synonyms

70kDa, Hsc70t, Msh5

MMRRC Submission

042527-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R4926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35191679-35198204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35197199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 413 (T413A)

Ref Sequence

ENSEMBL: ENSMUSP00000007248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007248] [ENSMUST00000007266] [ENSMUST00000114011] [ENSMUST00000173004]

AlphaFold

P16627

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007248
AA Change: T413A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: T413A

Domain	Start	End	E-Value	Type
Pfam:HSP70	8	614	6.5e-269	PFAM
low complexity region	616	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000007266

SMART Domains

Protein: ENSMUSP00000007266
Gene: ENSMUSG00000007050

Domain	Start	End	E-Value	Type
Sm	41	108	8.91e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114011

SMART Domains

Protein: ENSMUSP00000109644
Gene: ENSMUSG00000007050

Domain	Start	End	E-Value	Type
Sm	5	72	8.91e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174860

Predicted Effect

probably benign
Transcript: ENSMUST00000173004

Meta Mutation Damage Score

0.5948

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,272,498 (GRCm39)	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,447,891 (GRCm39)	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,571,068 (GRCm39)	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,287,151 (GRCm39)	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,229,949 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,563 (GRCm39)	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,194,416 (GRCm39)	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,476,829 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,706,535 (GRCm39)		probably benign	Het
Chd5	T	C	4: 152,467,768 (GRCm39)	S1689P	probably benign	Het
Corin	A	G	5: 72,529,525 (GRCm39)	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,049,597 (GRCm39)	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,928,266 (GRCm39)	R260C	probably damaging	Het
Dock6	T	C	9: 21,757,087 (GRCm39)	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,751,656 (GRCm39)		probably benign	Het
Epop	T	C	11: 97,519,143 (GRCm39)	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,798,004 (GRCm39)		probably benign	Het
Exph5	T	C	9: 53,287,925 (GRCm39)	S1669P	possibly damaging	Het
Faah	A	T	4: 115,856,823 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,030,724 (GRCm39)	C453R	probably benign	Het
Fcgbp	T	A	7: 27,785,660 (GRCm39)	C366S	probably damaging	Het
Fmn2	A	G	1: 174,329,981 (GRCm39)	T124A	unknown	Het
Foxi3	C	T	6: 70,933,996 (GRCm39)	S161L	probably damaging	Het
Foxo3	A	T	10: 42,073,020 (GRCm39)	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Gm839	A	C	6: 89,189,581 (GRCm39)		noncoding transcript	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Hspg2	T	C	4: 137,269,841 (GRCm39)	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,884,093 (GRCm39)	I53L	probably benign	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrrc41	T	C	4: 115,946,521 (GRCm39)	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,056,385 (GRCm39)	E1023D	probably damaging	Het
Mark3	T	A	12: 111,584,758 (GRCm39)	L118*	probably null	Het
Mrgpra9	T	A	7: 46,884,759 (GRCm39)	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,232,647 (GRCm39)	E68G	probably benign	Het
Nckap5	A	C	1: 126,456,378 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,169 (GRCm39)	T339S	probably damaging	Het
Nrip2	A	C	6: 128,385,337 (GRCm39)	H256P	probably benign	Het
Oas1d	T	C	5: 121,053,831 (GRCm39)	V97A	probably benign	Het
Obox2	T	A	7: 15,131,102 (GRCm39)		probably null	Het
Opa1	T	C	16: 29,467,791 (GRCm39)	F989S	possibly damaging	Het
Or10g9	T	C	9: 39,912,319 (GRCm39)		probably null	Het
Padi1	T	A	4: 140,552,158 (GRCm39)	I429F	probably damaging	Het
Paics	A	G	5: 77,109,051 (GRCm39)	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,027,364 (GRCm39)	E1288*	probably null	Het
Prdm16	A	T	4: 154,426,009 (GRCm39)	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,090,830 (GRCm39)	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,361,143 (GRCm39)	T26A	probably benign	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Rab44	C	T	17: 29,358,529 (GRCm39)	A239V	probably benign	Het
Rtcb	T	C	10: 85,791,600 (GRCm39)	N52S	probably benign	Het
Sapcd2	T	A	2: 25,263,578 (GRCm39)		probably null	Het
Scaf11	T	C	15: 96,316,123 (GRCm39)	E1147G	possibly damaging	Het
Selenoo	T	C	15: 88,983,881 (GRCm39)	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,205,199 (GRCm39)	E3*	probably null	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sorbs2	A	G	8: 46,249,254 (GRCm39)	K755R	probably benign	Het
Sorbs3	G	T	14: 70,424,394 (GRCm39)	P513T	probably damaging	Het
Sowaha	T	A	11: 53,370,337 (GRCm39)	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,994,075 (GRCm39)		probably benign	Het
St8sia5	T	A	18: 77,342,478 (GRCm39)	M396K	possibly damaging	Het
Tcp11l1	T	C	2: 104,512,130 (GRCm39)	I501V	probably benign	Het
Tert	A	G	13: 73,796,508 (GRCm39)	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,033,323 (GRCm39)	M1L	possibly damaging	Het
Thop1	T	A	10: 80,909,201 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,210,618 (GRCm39)	H80R	probably damaging	Het
Toe1	C	T	4: 116,661,729 (GRCm39)	S480N	probably damaging	Het
Trap1	C	A	16: 3,863,352 (GRCm39)	V557F	probably benign	Het
Trim30d	T	C	7: 104,132,564 (GRCm39)	E91G	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,798,368 (GRCm39)	G789V	probably damaging	Het
Ulk4	A	G	9: 121,087,798 (GRCm39)	F298S	probably benign	Het
Wwc1	C	T	11: 35,780,227 (GRCm39)	A243T	probably benign	Het
Zfp248	A	C	6: 118,406,787 (GRCm39)	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,321,785 (GRCm39)	M945L	probably benign	Het
Zup1	T	C	10: 33,825,434 (GRCm39)	D16G	probably damaging	Het

Other mutations in Hspa1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Hspa1l	APN	17	35,196,441 (GRCm39)	missense	probably damaging	1.00
IGL01548:Hspa1l	APN	17	35,197,367 (GRCm39)	missense	probably damaging	0.98
IGL01860:Hspa1l	APN	17	35,197,787 (GRCm39)	missense	probably benign	0.00
IGL01959:Hspa1l	APN	17	35,196,111 (GRCm39)	missense	probably damaging	1.00
IGL02661:Hspa1l	APN	17	35,196,251 (GRCm39)	missense	probably benign
R0355:Hspa1l	UTSW	17	35,196,386 (GRCm39)	missense	probably benign
R0850:Hspa1l	UTSW	17	35,196,599 (GRCm39)	missense	probably benign	0.01
R1675:Hspa1l	UTSW	17	35,196,419 (GRCm39)	missense	probably damaging	1.00
R2148:Hspa1l	UTSW	17	35,196,366 (GRCm39)	missense	probably damaging	0.98
R2169:Hspa1l	UTSW	17	35,196,299 (GRCm39)	missense	probably benign
R2418:Hspa1l	UTSW	17	35,196,164 (GRCm39)	missense	probably benign	0.05
R4323:Hspa1l	UTSW	17	35,196,832 (GRCm39)	nonsense	probably null
R4924:Hspa1l	UTSW	17	35,196,832 (GRCm39)	nonsense	probably null
R5186:Hspa1l	UTSW	17	35,197,445 (GRCm39)	missense	probably damaging	0.97
R5653:Hspa1l	UTSW	17	35,196,396 (GRCm39)	missense	probably damaging	1.00
R5790:Hspa1l	UTSW	17	35,196,216 (GRCm39)	missense	probably benign	0.08
R6086:Hspa1l	UTSW	17	35,197,131 (GRCm39)	missense	possibly damaging	0.77
R6237:Hspa1l	UTSW	17	35,196,428 (GRCm39)	nonsense	probably null
R7229:Hspa1l	UTSW	17	35,196,231 (GRCm39)	missense	probably benign	0.05
R8871:Hspa1l	UTSW	17	35,197,799 (GRCm39)	missense	probably benign	0.42
R8952:Hspa1l	UTSW	17	35,196,946 (GRCm39)	missense	probably benign
R8968:Hspa1l	UTSW	17	35,196,230 (GRCm39)	missense	possibly damaging	0.83
R8984:Hspa1l	UTSW	17	35,197,092 (GRCm39)	missense	probably damaging	0.99
R9056:Hspa1l	UTSW	17	35,196,849 (GRCm39)	missense	probably benign	0.16
R9479:Hspa1l	UTSW	17	35,196,735 (GRCm39)	missense	probably benign	0.05
R9520:Hspa1l	UTSW	17	35,196,972 (GRCm39)	missense	probably damaging	1.00
Z1176:Hspa1l	UTSW	17	35,197,468 (GRCm39)	missense	possibly damaging	0.52
Z1177:Hspa1l	UTSW	17	35,196,992 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- AACTGCTTCAGGACTACTTTAATGG -3'
(R):5'- TCGATGTCGAAGGTCACCTC -3'

Sequencing Primer
(F):5'- AGGACTACTTTAATGGACGGGATCTC -3'
(R):5'- ATGTCGAAGGTCACCTCGATCTG -3'

Posted On

2016-04-15