Mutagenetix > Incidental Mutation

Incidental Mutation 'R6705:D1Pas1'

528883

Institutional Source

Beutler Lab

Gene Symbol

D1Pas1

Ensembl Gene

ENSMUSG00000039224

Gene Name

DNA segment, Chr 1, Pasteur Institute 1

Synonyms

Pl10

MMRRC Submission

044823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

186699613-186702824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 186700576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 168 (E168D)

Ref Sequence

ENSEMBL: ENSMUSP00000035261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045108]

AlphaFold

P16381

Predicted Effect

probably benign
Transcript: ENSMUST00000045108
AA Change: E168D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035261
Gene: ENSMUSG00000039224
AA Change: E168D

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	80	102	N/A	INTRINSIC
low complexity region	104	122	N/A	INTRINSIC
DEXDc	198	417	9.08e-66	SMART
HELICc	454	535	1.23e-35	SMART
low complexity region	580	596	N/A	INTRINSIC
low complexity region	598	654	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191895

Meta Mutation Damage Score

0.0906

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	A	19: 57,204,253 (GRCm39)	T46I	probably benign	Het
Afdn	G	A	17: 14,108,283 (GRCm39)	V1269I	probably benign	Het
Aldh5a1	A	T	13: 25,096,253 (GRCm39)	N448K	probably damaging	Het
Cant1	G	T	11: 118,298,698 (GRCm39)	T355K	probably damaging	Het
Ccn2	T	A	10: 24,471,853 (GRCm39)	L25Q	probably damaging	Het
Comp	C	A	8: 70,829,387 (GRCm39)	N321K	probably damaging	Het
Ddx23	G	A	15: 98,550,849 (GRCm39)	R111*	probably null	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Erlin2	T	A	8: 27,526,468 (GRCm39)	L276Q	probably damaging	Het
Etaa1	T	C	11: 17,895,639 (GRCm39)	N826S	probably benign	Het
Fam168b	A	T	1: 34,867,864 (GRCm39)	N45K	probably damaging	Het
Gas2l2	G	A	11: 83,313,462 (GRCm39)	R617*	probably null	Het
Gtf3c2	C	A	5: 31,323,352 (GRCm39)	C533F	possibly damaging	Het
Hdac5	T	C	11: 102,092,062 (GRCm39)	T676A	probably damaging	Het
Helb	A	G	10: 119,925,716 (GRCm39)		probably null	Het
Igkv3-7	A	T	6: 70,585,004 (GRCm39)	S95C	probably benign	Het
Kdm3b	A	G	18: 34,952,926 (GRCm39)	I899V	probably damaging	Het
Lgr5	G	A	10: 115,423,193 (GRCm39)	S69F	probably damaging	Het
Lrrc55	A	T	2: 85,026,699 (GRCm39)	D108E	probably benign	Het
Mphosph9	T	C	5: 124,429,027 (GRCm39)	N667S	possibly damaging	Het
Myf6	C	T	10: 107,329,690 (GRCm39)	V198M	possibly damaging	Het
Nav2	T	C	7: 49,201,664 (GRCm39)	S1413P	probably damaging	Het
Nfe2l1	A	C	11: 96,718,451 (GRCm39)	V28G	probably damaging	Het
Nup210	G	T	6: 91,064,942 (GRCm39)	T186K	possibly damaging	Het
Or13a18	T	A	7: 140,190,697 (GRCm39)	M206K	probably damaging	Het
Or6c1b	G	A	10: 129,272,941 (GRCm39)	D87N	probably benign	Het
Or8b12	T	A	9: 37,658,030 (GRCm39)	I200N	possibly damaging	Het
Or8b4	T	A	9: 37,830,080 (GRCm39)	N42K	probably damaging	Het
Ppfia1	G	A	7: 144,072,911 (GRCm39)	T301M	possibly damaging	Het
Ppp1r14c	A	T	10: 3,316,890 (GRCm39)	Y75F	probably damaging	Het
Ppp1r3g	C	A	13: 36,152,880 (GRCm39)	A100E	probably benign	Het
Rictor	A	G	15: 6,823,493 (GRCm39)	T1557A	probably benign	Het
Shc1	C	T	3: 89,330,266 (GRCm39)	R67*	probably null	Het
Skint10	A	T	4: 112,630,301 (GRCm39)		probably benign	Het
Slk	A	G	19: 47,597,498 (GRCm39)	N102S	probably benign	Het
Tbc1d5	T	C	17: 51,332,203 (GRCm39)		probably benign	Het
Tiam2	G	A	17: 3,568,518 (GRCm39)	V1555I	probably benign	Het
Vmn1r174	C	A	7: 23,453,851 (GRCm39)	S172R	probably benign	Het
Vps39	A	T	2: 120,151,157 (GRCm39)	N823K	probably benign	Het
Wdr27	A	T	17: 15,154,852 (GRCm39)	Y22N	probably damaging	Het
Xrn2	A	G	2: 146,878,582 (GRCm39)		probably null	Het
Zbp1	A	T	2: 173,055,680 (GRCm39)	C161*	probably null	Het
Zfp236	T	A	18: 82,651,862 (GRCm39)	E821V	probably damaging	Het

Other mutations in D1Pas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00816:D1Pas1	APN	1	186,701,609 (GRCm39)	missense	possibly damaging	0.55
IGL00921:D1Pas1	APN	1	186,700,983 (GRCm39)	missense	probably benign	0.44
R1693:D1Pas1	UTSW	1	186,700,226 (GRCm39)	missense	probably benign
R2029:D1Pas1	UTSW	1	186,700,286 (GRCm39)	missense	possibly damaging	0.53
R3732:D1Pas1	UTSW	1	186,700,294 (GRCm39)	missense	probably benign	0.00
R3732:D1Pas1	UTSW	1	186,700,294 (GRCm39)	missense	probably benign	0.00
R3733:D1Pas1	UTSW	1	186,700,294 (GRCm39)	missense	probably benign	0.00
R3930:D1Pas1	UTSW	1	186,700,477 (GRCm39)	missense	probably damaging	1.00
R5302:D1Pas1	UTSW	1	186,701,642 (GRCm39)	missense	probably damaging	1.00
R5815:D1Pas1	UTSW	1	186,700,206 (GRCm39)	missense	probably damaging	1.00
R7023:D1Pas1	UTSW	1	186,700,205 (GRCm39)	missense	probably damaging	0.96
R7747:D1Pas1	UTSW	1	186,700,874 (GRCm39)	missense	probably benign	0.08
R7862:D1Pas1	UTSW	1	186,700,349 (GRCm39)	missense	probably damaging	1.00
R8410:D1Pas1	UTSW	1	186,700,512 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTGGCTTTGGCAAATTTGAG -3'
(R):5'- CTGGACCATCCGTATAGATCTGAC -3'

Sequencing Primer
(F):5'- TGGCAAATTTGAGCGGGGC -3'
(R):5'- GAAAAGCTGCTGTTTTTCCAGACC -3'

Posted On

2018-07-24