Mutagenetix > Incidental Mutation

Incidental Mutation 'R2353:Hspa14'

246242

Institutional Source

Beutler Lab

Gene Symbol

Hspa14

Ensembl Gene

ENSMUSG00000109865

Gene Name

heat shock protein 14

Synonyms

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

MMRRC Submission

040335-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R2353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3488850-3512814 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 3511176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120385 (fasta)

Gene Model

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

AlphaFold

Q99M31

Predicted Effect

probably null
Transcript: ENSMUST00000027961
AA Change: Q46*

SMART Domains

Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: Q46*

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

Predicted Effect

probably null
Transcript: ENSMUST00000027961
AA Change: Q46*

SMART Domains

Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: Q46*

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 null
Transcript: ENSMUST00000124331

SMART Domains

Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000140494

SMART Domains

Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396

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

Predicted Effect

probably null
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

0.4766

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	T	4: 144,623,209	E345D	probably damaging	Het
Adam7	T	A	14: 68,505,088	Q692L	probably benign	Het
AF366264	T	A	8: 13,836,951	E380V	probably damaging	Het
Ankk1	A	C	9: 49,418,690	C322G	probably benign	Het
Ap3b2	C	T	7: 81,473,850		probably benign	Het
Apeh	T	C	9: 108,086,292	D577G	possibly damaging	Het
Aspm	T	A	1: 139,477,697	W1441R	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Cd163	G	T	6: 124,319,156	E820*	probably null	Het
Cd38	T	A	5: 43,908,011		probably null	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Enpp1	C	A	10: 24,651,341	Q649H	probably benign	Het
Garnl3	T	A	2: 33,064,034	R86S	probably damaging	Het
Gbe1	A	G	16: 70,437,021		probably null	Het
Gm5117	A	G	8: 31,739,195		noncoding transcript	Het
Hip1	A	T	5: 135,412,712	V568E	probably damaging	Het
Lrrc4	A	G	6: 28,831,452	F55L	probably benign	Het
Med31	T	A	11: 72,214,140	N35I	probably damaging	Het
Msi1	C	A	5: 115,436,509		probably benign	Het
Olfr1270	A	T	2: 90,149,718	L96Q	probably damaging	Het
Olfr394	T	C	11: 73,887,834	I179M	probably benign	Het
Parl	T	C	16: 20,287,040	T211A	probably benign	Het
Ppwd1	T	C	13: 104,213,582	I432V	probably benign	Het
Scn10a	T	A	9: 119,638,687	I796F	probably damaging	Het
Sh3rf3	A	G	10: 59,007,073	D287G	probably damaging	Het
Sin3b	T	C	8: 72,724,152		probably null	Het
Ubr4	T	C	4: 139,433,673	I2493T	possibly damaging	Het
Uts2	T	A	4: 151,000,136		probably null	Het
Zfp109	T	C	7: 24,229,381	D201G	probably benign	Het
Zfp407	A	G	18: 84,559,880	F1036S	probably damaging	Het
Znrf3	T	C	11: 5,281,170	E685G	probably damaging	Het

Other mutations in Hspa14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Hspa14	APN	2	3502759	missense	probably damaging	1.00
IGL02293:Hspa14	APN	2	3511034	missense	probably damaging	1.00
IGL02477:Hspa14	APN	2	3496624	missense	probably damaging	0.98
IGL02711:Hspa14	APN	2	3502520	missense	probably benign	0.15
R0522:Hspa14	UTSW	2	3511049	missense	probably damaging	1.00
R1169:Hspa14	UTSW	2	3498124	missense	possibly damaging	0.90
R1426:Hspa14	UTSW	2	3508821	missense	probably damaging	1.00
R1471:Hspa14	UTSW	2	3491608	missense	probably benign	0.01
R1846:Hspa14	UTSW	2	3491660	missense	possibly damaging	0.50
R1971:Hspa14	UTSW	2	3489767	missense	possibly damaging	0.51
R3508:Hspa14	UTSW	2	3491008	missense	probably damaging	1.00
R3859:Hspa14	UTSW	2	3494579	nonsense	probably null
R4012:Hspa14	UTSW	2	3512638	missense	probably damaging	0.99
R4360:Hspa14	UTSW	2	3502523	missense	possibly damaging	0.89
R4938:Hspa14	UTSW	2	3491609	missense	probably benign	0.01
R5028:Hspa14	UTSW	2	3498169	missense	possibly damaging	0.72
R5326:Hspa14	UTSW	2	3502523	missense	possibly damaging	0.89
R5542:Hspa14	UTSW	2	3502523	missense	possibly damaging	0.89
R5881:Hspa14	UTSW	2	3498170	missense	probably benign	0.34
R6046:Hspa14	UTSW	2	3489764	missense	possibly damaging	0.91
R6076:Hspa14	UTSW	2	3511072	missense	probably benign	0.00
R6112:Hspa14	UTSW	2	3498068	missense	probably benign
R6334:Hspa14	UTSW	2	3489072	splice site	probably null
R7297:Hspa14	UTSW	2	3498142	missense	possibly damaging	0.76
R7424:Hspa14	UTSW	2	3489041	missense	possibly damaging	0.95
R7510:Hspa14	UTSW	2	3498122	missense	probably benign	0.01
R7692:Hspa14	UTSW	2	3496606	missense	probably damaging	1.00
R8394:Hspa14	UTSW	2	3512633	critical splice donor site	probably null
R9780:Hspa14	UTSW	2	3489704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGCCATACCTTCTGCCAAG -3'
(R):5'- GACTTTAAGGCCTGAATGGGTG -3'

Sequencing Primer
(F):5'- AAGGATCTGTTTCACTTTCACTACTG -3'
(R):5'- AAGGCCTGAATGGGTGTCACTC -3'

Posted On

2014-10-30