Mutagenetix > Incidental Mutation

Incidental Mutation 'R9419:Hsf5'

712237

Institutional Source

Beutler Lab

Gene Symbol

Hsf5

Ensembl Gene

ENSMUSG00000070345

Gene Name

heat shock transcription factor family member 5

Synonyms

LOC327992

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R9419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87507990-87550368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87528935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 557 (N557D)

Ref Sequence

ENSEMBL: ENSMUSP00000091488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093956]

AlphaFold

Q5ND04

Predicted Effect

probably benign
Transcript: ENSMUST00000093956
AA Change: N557D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345
AA Change: N557D

Domain	Start	End	E-Value	Type
HSF	11	153	2.35e-9	SMART
Blast:HSF	163	423	1e-149	BLAST
low complexity region	442	457	N/A	INTRINSIC

Meta Mutation Damage Score

0.0646

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,682,685 (GRCm39)	T30A	unknown	Het
Abca12	A	G	1: 71,342,649 (GRCm39)	Y944H	possibly damaging	Het
Adgrv1	T	C	13: 81,656,887 (GRCm39)	N2869S	probably benign	Het
Ank1	C	A	8: 23,574,825 (GRCm39)	Q140K	probably damaging	Het
Aspm	T	A	1: 139,384,923 (GRCm39)	M189K	probably benign	Het
Atp2b1	G	T	10: 98,837,178 (GRCm39)	R539L	possibly damaging	Het
Camsap1	A	G	2: 25,845,304 (GRCm39)	S152P		Het
Catsperd	A	T	17: 56,958,821 (GRCm39)	I276L	probably benign	Het
Cbarp	A	G	10: 79,967,861 (GRCm39)	V460A	probably damaging	Het
Ccdc168	T	C	1: 44,096,935 (GRCm39)	I1388V	probably benign	Het
Cd40	A	T	2: 164,904,162 (GRCm39)		probably benign	Het
Cdk11b	A	T	4: 155,724,302 (GRCm39)	T307S	unknown	Het
Chfr	C	T	5: 110,317,056 (GRCm39)	T643I	probably damaging	Het
Cnbd1	T	C	4: 19,098,156 (GRCm39)	Q88R	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ghdc	G	T	11: 100,661,081 (GRCm39)	A28D	probably damaging	Het
Gm5114	T	C	7: 39,057,540 (GRCm39)	H693R	possibly damaging	Het
H2-M1	G	T	17: 36,981,231 (GRCm39)	A268E	probably damaging	Het
Ighg2c	A	G	12: 113,251,015 (GRCm39)		probably benign	Het
Il17ra	C	A	6: 120,458,255 (GRCm39)	Q469K	possibly damaging	Het
Ipo8	T	A	6: 148,686,064 (GRCm39)	N809Y	probably benign	Het
Klra10	T	A	6: 130,256,435 (GRCm39)	Q73L	probably damaging	Het
Lamb2	T	C	9: 108,356,959 (GRCm39)	V3A	unknown	Het
Map3k9	T	C	12: 81,827,341 (GRCm39)	Y103C	probably damaging	Het
Map4	T	C	9: 109,882,029 (GRCm39)	S298P	possibly damaging	Het
Mtus2	T	A	5: 148,243,451 (GRCm39)	N1254K	probably damaging	Het
Nap1l5	T	A	6: 58,883,952 (GRCm39)	M1L	probably benign	Het
Nfxl1	G	A	5: 72,716,641 (GRCm39)		probably benign	Het
Nmd3	T	C	3: 69,643,349 (GRCm39)	I227T	probably benign	Het
Or8c10	T	G	9: 38,279,162 (GRCm39)	C97G	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Ptchd3	G	A	11: 121,732,356 (GRCm39)	M415I	possibly damaging	Het
Rab28	A	T	5: 41,793,182 (GRCm39)	S154R	possibly damaging	Het
Rin1	A	G	19: 5,103,735 (GRCm39)	E567G	probably damaging	Het
Rrbp1	A	C	2: 143,811,436 (GRCm39)	V806G	probably benign	Het
Sec63	T	A	10: 42,679,901 (GRCm39)	L326Q	probably damaging	Het
Serinc2	T	C	4: 130,149,315 (GRCm39)	T296A	probably damaging	Het
Skint10	G	A	4: 112,572,981 (GRCm39)	L272F	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stag1	A	G	9: 100,811,967 (GRCm39)	Q815R	probably benign	Het
Stat3	A	G	11: 100,780,357 (GRCm39)	M735T	possibly damaging	Het
Stat3	A	G	11: 100,784,738 (GRCm39)	I576T	probably benign	Het
Styxl2	T	C	1: 165,927,755 (GRCm39)	Q619R	probably damaging	Het
Syne1	T	C	10: 5,155,071 (GRCm39)	K5623E	probably benign	Het
Tas1r2	T	C	4: 139,387,036 (GRCm39)	V165A	possibly damaging	Het
Tcaf3	A	T	6: 42,573,716 (GRCm39)	D165E	probably benign	Het
Tex2	G	A	11: 106,457,835 (GRCm39)	Q532*	probably null	Het
Utrn	T	C	10: 12,564,125 (GRCm39)	E1245G	probably damaging	Het

Other mutations in Hsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Hsf5	APN	11	87,513,922 (GRCm39)	missense	probably damaging	0.99
IGL01726:Hsf5	APN	11	87,526,951 (GRCm39)	missense	probably benign	0.22
IGL02480:Hsf5	APN	11	87,522,483 (GRCm39)	missense	possibly damaging	0.67
IGL02572:Hsf5	APN	11	87,522,521 (GRCm39)	splice site	probably benign
IGL03113:Hsf5	APN	11	87,548,190 (GRCm39)	missense	probably benign	0.03
R0015:Hsf5	UTSW	11	87,548,161 (GRCm39)	missense	probably benign
R0015:Hsf5	UTSW	11	87,548,161 (GRCm39)	missense	probably benign
R1381:Hsf5	UTSW	11	87,528,995 (GRCm39)	missense	probably benign
R1807:Hsf5	UTSW	11	87,548,168 (GRCm39)	missense	probably benign	0.04
R1838:Hsf5	UTSW	11	87,526,881 (GRCm39)	missense	probably benign	0.45
R2187:Hsf5	UTSW	11	87,529,010 (GRCm39)	missense	possibly damaging	0.51
R3930:Hsf5	UTSW	11	87,522,508 (GRCm39)	missense	probably damaging	1.00
R3931:Hsf5	UTSW	11	87,522,508 (GRCm39)	missense	probably damaging	1.00
R4420:Hsf5	UTSW	11	87,548,130 (GRCm39)	missense	probably benign	0.02
R4423:Hsf5	UTSW	11	87,522,460 (GRCm39)	missense	probably damaging	0.99
R4744:Hsf5	UTSW	11	87,513,617 (GRCm39)	missense	probably benign	0.02
R4795:Hsf5	UTSW	11	87,526,446 (GRCm39)	missense	probably benign	0.18
R5862:Hsf5	UTSW	11	87,513,817 (GRCm39)	missense	probably damaging	0.96
R6232:Hsf5	UTSW	11	87,508,120 (GRCm39)	missense	probably benign	0.05
R6234:Hsf5	UTSW	11	87,508,120 (GRCm39)	missense	probably benign	0.05
R6609:Hsf5	UTSW	11	87,526,779 (GRCm39)	missense	probably damaging	0.99
R7821:Hsf5	UTSW	11	87,528,954 (GRCm39)	missense	probably benign	0.04
R7989:Hsf5	UTSW	11	87,526,450 (GRCm39)	missense	probably benign	0.07
R9299:Hsf5	UTSW	11	87,526,770 (GRCm39)	missense	probably benign
R9752:Hsf5	UTSW	11	87,513,709 (GRCm39)	missense	probably benign	0.22
Z1177:Hsf5	UTSW	11	87,528,959 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTATCAAGGGTAATGACCTTC -3'
(R):5'- GAATTACATCCCGAGGTTCAGTTC -3'

Sequencing Primer
(F):5'- TCAAGGGTAATGACCTTCACAAG -3'
(R):5'- AGGTTCAGTTCCTAGCATTTTAGAGC -3'

Posted On

2022-05-16