Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Hspa1l'

718857

Institutional Source

Beutler Lab

Gene Symbol

Hspa1l

Ensembl Gene

ENSMUSG00000007033

Gene Name

heat shock protein 1-like

Synonyms

70kDa, Hsc70t, Msh5

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35191679-35198204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35196972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 337 (V337D)

Ref Sequence

ENSEMBL: ENSMUSP00000007248 (fasta)

Gene Model

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

AlphaFold

P16627

Predicted Effect

probably damaging
Transcript: ENSMUST00000007248
AA Change: V337D

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

SMART Domains

Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: V337D

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

probably benign
Transcript: ENSMUST00000173004

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cacna1b	A	T	2: 24,651,799 (GRCm39)	S127T	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Chek1	T	C	9: 36,625,121 (GRCm39)	E320G	probably benign	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Myo3b	A	G	2: 70,062,753 (GRCm39)	T346A	possibly damaging	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rnf207	T	C	4: 152,396,234 (GRCm39)	Y510C	probably damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	probably benign	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
R4926:Hspa1l	UTSW	17	35,197,199 (GRCm39)	missense	possibly damaging	0.92
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
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'- GCAAACCTGGAGATCGACTC -3'
(R):5'- TTGATCAGTACAGTCATCACACCC -3'

Sequencing Primer
(F):5'- CGACTCTTTATATGAGGGCATCGAC -3'
(R):5'- TCTCCAATCCTAGAGACAGGGG -3'

Posted On

2022-07-18