Mutagenetix > Incidental Mutation

Incidental Mutation 'R9532:D17H6S53E'

719546

Institutional Source

Beutler Lab

Gene Symbol

D17H6S53E

Ensembl Gene

ENSMUSG00000043311

Gene Name

DNA segment, Chr 17, human D6S53E

Synonyms

NG34

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35345378-35347831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35346145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 19 (S19T)

Ref Sequence

ENSEMBL: ENSMUSP00000061264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025249] [ENSMUST00000052167] [ENSMUST00000061859] [ENSMUST00000165306] [ENSMUST00000173043] [ENSMUST00000173380]

AlphaFold

Q9Z1R4

Predicted Effect

probably benign
Transcript: ENSMUST00000025249

SMART Domains

Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391

Domain	Start	End	E-Value	Type
Pfam:ApoM	1	189	9.2e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052167

SMART Domains

Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	82	99	N/A	INTRINSIC
ANK	156	186	4.36e-1	SMART
G_patch	269	315	1.45e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061859
AA Change: S19T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311
AA Change: S19T

Domain	Start	End	E-Value	Type
Pfam:DUF4661	16	264	8.3e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165306

SMART Domains

Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	4.36e-1	SMART
G_patch	246	292	1.45e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173043

SMART Domains

Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC
ANK	133	163	2.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173380

SMART Domains

Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417

Domain	Start	End	E-Value	Type
low complexity region	59	76	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,397 (GRCm39)	N165S	unknown	Het
9530002B09Rik	C	A	4: 122,596,133 (GRCm39)	N121K	unknown	Het
Abca1	A	T	4: 53,109,284 (GRCm39)	N141K	probably benign	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Bco2	T	C	9: 50,457,371 (GRCm39)	N57S	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cacna1a	T	A	8: 85,338,246 (GRCm39)	W1709R	probably damaging	Het
Cep95	A	G	11: 106,687,042 (GRCm39)	E117G	probably damaging	Het
Dab2	G	T	15: 6,451,762 (GRCm39)	R126L	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Espl1	T	A	15: 102,228,260 (GRCm39)	L1678*	probably null	Het
Fam171b	T	C	2: 83,710,212 (GRCm39)	V628A	probably damaging	Het
Fgf8	A	T	19: 45,725,679 (GRCm39)	V186E	probably damaging	Het
Fmnl2	A	T	2: 53,006,941 (GRCm39)	Y751F	unknown	Het
Frmpd1	A	T	4: 45,278,886 (GRCm39)	E537V		Het
Garin3	A	G	11: 46,297,673 (GRCm39)	T326A		Het
Grin1	C	T	2: 25,187,909 (GRCm39)	G529D	probably damaging	Het
Heatr1	C	T	13: 12,429,306 (GRCm39)	T872I	possibly damaging	Het
Hectd4	T	C	5: 121,502,616 (GRCm39)	I4240T	probably benign	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Hyls1	T	A	9: 35,473,398 (GRCm39)	Q6L	probably benign	Het
Igfn1	A	T	1: 135,897,229 (GRCm39)	D1112E	possibly damaging	Het
Ighv1-82	T	G	12: 115,916,158 (GRCm39)	R117S	probably damaging	Het
Iqch	G	A	9: 63,389,935 (GRCm39)	A748V		Het
Kcnd2	G	T	6: 21,727,180 (GRCm39)	A578S	probably benign	Het
Klc2	A	G	19: 5,161,565 (GRCm39)	V315A	possibly damaging	Het
Klhl20	A	T	1: 160,937,329 (GRCm39)	D15E	probably benign	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Lhx4	T	A	1: 155,586,024 (GRCm39)	I96F	probably damaging	Het
Lyzl6	T	C	11: 103,522,168 (GRCm39)	T143A	probably benign	Het
Nup93	G	A	8: 95,041,249 (GRCm39)	A796T	probably damaging	Het
Nutm2	T	C	13: 50,628,475 (GRCm39)	V513A	probably benign	Het
Or51s1	A	G	7: 102,558,746 (GRCm39)	V100A	probably benign	Het
Or52e4	A	T	7: 104,706,275 (GRCm39)	H274L	probably damaging	Het
Pcdh8	A	G	14: 80,008,206 (GRCm39)	V119A	possibly damaging	Het
Pkmyt1	T	C	17: 23,954,691 (GRCm39)	I427T	probably benign	Het
Polr1g	A	T	7: 19,091,817 (GRCm39)	S97T	possibly damaging	Het
Polr3c	T	C	3: 96,629,866 (GRCm39)	D222G	probably null	Het
Prickle2	A	T	6: 92,683,096 (GRCm39)	S11T	probably benign	Het
Prpf8	G	A	11: 75,385,608 (GRCm39)	A930T	probably benign	Het
Prss40	G	T	1: 34,597,106 (GRCm39)	H147Q	probably damaging	Het
Prune2	A	T	19: 17,099,794 (GRCm39)	D1766V	probably benign	Het
Qrich1	C	T	9: 108,411,519 (GRCm39)	T348M	probably benign	Het
Slc20a1	T	C	2: 129,041,933 (GRCm39)	Y99H	probably damaging	Het
Slc6a15	T	C	10: 103,240,333 (GRCm39)	V352A	probably damaging	Het
Ttll3	A	G	6: 113,385,970 (GRCm39)	Q601R	possibly damaging	Het
Virma	T	C	4: 11,507,078 (GRCm39)		probably null	Het
Washc4	A	G	10: 83,417,258 (GRCm39)		probably benign	Het
Zdhhc18	A	T	4: 133,342,541 (GRCm39)	M191K	possibly damaging	Het
Zfp281	A	G	1: 136,554,894 (GRCm39)	N624S	probably benign	Het

Other mutations in D17H6S53E

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:D17H6S53E	APN	17	35,346,259 (GRCm39)	nonsense	probably null	0.00
R0833:D17H6S53E	UTSW	17	35,346,385 (GRCm39)	splice site	probably null
R0836:D17H6S53E	UTSW	17	35,346,385 (GRCm39)	splice site	probably null
R1690:D17H6S53E	UTSW	17	35,346,188 (GRCm39)	missense	possibly damaging	0.95
R3623:D17H6S53E	UTSW	17	35,346,512 (GRCm39)	missense	probably benign	0.03
R3624:D17H6S53E	UTSW	17	35,346,512 (GRCm39)	missense	probably benign	0.03
R4032:D17H6S53E	UTSW	17	35,346,355 (GRCm39)	missense	probably benign	0.06
R6919:D17H6S53E	UTSW	17	35,346,222 (GRCm39)	missense	probably damaging	1.00
R8467:D17H6S53E	UTSW	17	35,346,246 (GRCm39)	missense	probably damaging	1.00
R9242:D17H6S53E	UTSW	17	35,346,536 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCAAGCAGACACCTCTTCTG -3'
(R):5'- TGGTAGAGGCAGTCTTGTCC -3'

Sequencing Primer
(F):5'- TCTGAACCGGAACTGATTCTG -3'
(R):5'- CCGCTTGAGGGAATCCATTC -3'

Posted On

2022-07-18