Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Hspa14'

575891

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

045502-MU

Accession Numbers

Essential gene?

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

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3489891-3513851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3490078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 494 (D494N)

Ref Sequence

ENSEMBL: ENSMUSP00000027961 (fasta)

Gene Model

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

AlphaFold

Q99M31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027961
AA Change: D494N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: D494N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bcr	T	C	10: 74,992,932 (GRCm39)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Itih5	T	C	2: 10,250,448 (GRCm39)	S716P	probably damaging	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,237,907 (GRCm39)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het
Zbtb11	A	T	16: 55,810,850 (GRCm39)	H336L	probably benign	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
R0522:Hspa14	UTSW	2	3,512,086 (GRCm39)	missense	probably damaging	1.00
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
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'- ACACTTTAAAGAGCATCCCTATTTTCC -3'
(R):5'- TAGAAGTAAATCTAAGAGCCTCCTAG -3'

Sequencing Primer
(F):5'- AAGAAAACAAAGACTCCAGTACTTAG -3'
(R):5'- TCTAAGAGCCTCCTAGAAAAAGG -3'

Posted On

2019-10-07