Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Hspa14'

48609

Institutional Source

Beutler Lab

Gene Symbol

Hspa14

Ensembl Gene

ENSMUSG00000109865

Gene Name

heat shock protein 14

Synonyms

HSP70L1, 70kDa, NST-1, Hsp70-4

MMRRC Submission

038715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3489891-3513851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3512086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 63 (T63S)

Ref Sequence

ENSEMBL: ENSMUSP00000027961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027961] [ENSMUST00000036350] [ENSMUST00000124331] [ENSMUST00000140494]

AlphaFold

Q99M31

Predicted Effect

probably damaging
Transcript: ENSMUST00000027961
AA Change: T63S

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

SMART Domains

Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: T63S

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	509	6.3e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036350

SMART Domains

Protein: ENSMUSP00000046297
Gene: ENSMUSG00000039496

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Armet	36	181	2.6e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124331

SMART Domains

Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	74	1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132566

Predicted Effect

probably benign
Transcript: ENSMUST00000140494

SMART Domains

Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	88	1.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148167

Meta Mutation Damage Score

0.4556

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lgals9	G	T	11: 78,856,638 (GRCm39)	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Hspa14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hspa14	APN	2	3,503,796 (GRCm39)	missense	probably damaging	1.00
IGL02293:Hspa14	APN	2	3,512,071 (GRCm39)	missense	probably damaging	1.00
IGL02477:Hspa14	APN	2	3,497,661 (GRCm39)	missense	probably damaging	0.98
IGL02711:Hspa14	APN	2	3,503,557 (GRCm39)	missense	probably benign	0.15
R1169:Hspa14	UTSW	2	3,499,161 (GRCm39)	missense	possibly damaging	0.90
R1426:Hspa14	UTSW	2	3,509,858 (GRCm39)	missense	probably damaging	1.00
R1471:Hspa14	UTSW	2	3,492,645 (GRCm39)	missense	probably benign	0.01
R1846:Hspa14	UTSW	2	3,492,697 (GRCm39)	missense	possibly damaging	0.50
R1971:Hspa14	UTSW	2	3,490,804 (GRCm39)	missense	possibly damaging	0.51
R2353:Hspa14	UTSW	2	3,512,213 (GRCm39)	splice site	probably null
R3508:Hspa14	UTSW	2	3,492,045 (GRCm39)	missense	probably damaging	1.00
R3859:Hspa14	UTSW	2	3,495,616 (GRCm39)	nonsense	probably null
R4012:Hspa14	UTSW	2	3,513,675 (GRCm39)	missense	probably damaging	0.99
R4360:Hspa14	UTSW	2	3,503,560 (GRCm39)	missense	possibly damaging	0.89
R4938:Hspa14	UTSW	2	3,492,646 (GRCm39)	missense	probably benign	0.01
R5028:Hspa14	UTSW	2	3,499,206 (GRCm39)	missense	possibly damaging	0.72
R5326:Hspa14	UTSW	2	3,503,560 (GRCm39)	missense	possibly damaging	0.89
R5542:Hspa14	UTSW	2	3,503,560 (GRCm39)	missense	possibly damaging	0.89
R5881:Hspa14	UTSW	2	3,499,207 (GRCm39)	missense	probably benign	0.34
R6046:Hspa14	UTSW	2	3,490,801 (GRCm39)	missense	possibly damaging	0.91
R6076:Hspa14	UTSW	2	3,512,109 (GRCm39)	missense	probably benign	0.00
R6112:Hspa14	UTSW	2	3,499,105 (GRCm39)	missense	probably benign
R6334:Hspa14	UTSW	2	3,490,109 (GRCm39)	splice site	probably null
R7297:Hspa14	UTSW	2	3,499,179 (GRCm39)	missense	possibly damaging	0.76
R7424:Hspa14	UTSW	2	3,490,078 (GRCm39)	missense	possibly damaging	0.95
R7510:Hspa14	UTSW	2	3,499,159 (GRCm39)	missense	probably benign	0.01
R7692:Hspa14	UTSW	2	3,497,643 (GRCm39)	missense	probably damaging	1.00
R8394:Hspa14	UTSW	2	3,513,670 (GRCm39)	critical splice donor site	probably null
R9780:Hspa14	UTSW	2	3,490,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCAAAGAACCACTTGTGACTG -3'
(R):5'- TGTTGCTTACTCGGAACGTGAACAG -3'

Sequencing Primer
(F):5'- CCACTTGTGACTGGCATAAATGAC -3'
(R):5'- ACGTGAACAGGTACGGTC -3'

Posted On

2013-06-12