Mutagenetix > Incidental Mutation

Incidental Mutation 'R8467:D17H6S53E'

656893

Institutional Source

Beutler Lab

Gene Symbol

D17H6S53E

Ensembl Gene

ENSMUSG00000043311

Gene Name

DNA segment, Chr 17, human D6S53E

Synonyms

NG34

MMRRC Submission

067911-MU

Accession Numbers

Essential gene?

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

Stock #

R8467 (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 35346246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 52 (D52E)

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

probably damaging
Transcript: ENSMUST00000061859
AA Change: D52E

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

SMART Domains

Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311
AA Change: D52E

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apon	G	A	10: 128,091,002 (GRCm39)	V227I	probably benign	Het
Arl9	T	C	5: 77,154,446 (GRCm39)	I58T	probably damaging	Het
C4b	T	C	17: 34,951,787 (GRCm39)	T1326A	possibly damaging	Het
Cd55b	A	C	1: 130,347,501 (GRCm39)	S103R	possibly damaging	Het
Cep350	A	G	1: 155,791,321 (GRCm39)	F1268L	probably benign	Het
Dhx57	G	C	17: 80,561,853 (GRCm39)	P887R	probably damaging	Het
Ehd1	T	G	19: 6,331,318 (GRCm39)	S159A	probably benign	Het
Fam98a	C	A	17: 75,851,830 (GRCm39)	G84W	probably damaging	Het
Fbxl22	C	T	9: 66,421,849 (GRCm39)		probably null	Het
Gbp11	T	A	5: 105,475,457 (GRCm39)	Y297F	probably damaging	Het
Gimap8	A	G	6: 48,627,269 (GRCm39)	H81R	probably benign	Het
Gpd2	A	G	2: 57,254,596 (GRCm39)	E680G	possibly damaging	Het
Grid2	A	G	6: 64,510,635 (GRCm39)	D755G	probably benign	Het
Hivep3	T	C	4: 119,952,238 (GRCm39)	Y185H	probably damaging	Het
Hunk	A	G	16: 90,293,508 (GRCm39)	R597G	probably damaging	Het
Igfbp3	A	G	11: 7,163,523 (GRCm39)	C90R	probably damaging	Het
Il7r	T	C	15: 9,512,973 (GRCm39)	T179A	probably benign	Het
Iqsec3	G	A	6: 121,358,676 (GRCm39)	T1003I	probably benign	Het
Kif13b	A	T	14: 64,996,154 (GRCm39)	D980V	probably damaging	Het
Kif21b	A	G	1: 136,100,021 (GRCm39)	D1525G	probably damaging	Het
Lgsn	A	G	1: 31,242,731 (GRCm39)	E271G	probably benign	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Marchf10	A	T	11: 105,280,979 (GRCm39)	Y435*	probably null	Het
Msantd5	A	G	11: 51,125,105 (GRCm39)	I108V	possibly damaging	Het
Mup9	C	T	4: 60,376,481 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,136,168 (GRCm39)	V97E	probably damaging	Het
Nobox	G	T	6: 43,282,479 (GRCm39)	D309E	probably benign	Het
Nup155	A	G	15: 8,151,015 (GRCm39)	D355G	probably benign	Het
Or6n1	A	T	1: 173,917,007 (GRCm39)	T134S	probably benign	Het
Otud7b	A	G	3: 96,062,993 (GRCm39)	D744G	probably benign	Het
Phgdh	A	G	3: 98,228,627 (GRCm39)	V182A	probably benign	Het
Scarb1	A	T	5: 125,375,731 (GRCm39)	I231N	probably damaging	Het
Scn9a	A	G	2: 66,332,015 (GRCm39)	L1276P	probably damaging	Het
Smarca2	T	A	19: 26,597,121 (GRCm39)	M1K	probably null	Het
Sp3	G	A	2: 72,801,482 (GRCm39)	T177I	possibly damaging	Het
Vmn1r21	A	T	6: 57,821,441 (GRCm39)	M1K	probably null	Het
Zfyve16	A	T	13: 92,644,790 (GRCm39)	H1137Q	probably damaging	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
R9242:D17H6S53E	UTSW	17	35,346,536 (GRCm39)	missense	possibly damaging	0.95
R9532:D17H6S53E	UTSW	17	35,346,145 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGCACAGCTCAGTCATGTTC -3'
(R):5'- ACTCCAAGGTTCTTCACGC -3'

Sequencing Primer
(F):5'- AGTCATGTTCCTTCGACGG -3'
(R):5'- CACAGGATCCCAGTCTAGTTTGG -3'

Posted On

2021-01-18