Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:AW146154'

156653

Institutional Source

Beutler Lab

Gene Symbol

AW146154

Ensembl Gene

ENSMUSG00000074166

Gene Name

expressed sequence AW146154

Synonyms

MMRRC Submission

039416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41128298-41149314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41129878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 413 (C413S)

Ref Sequence

ENSEMBL: ENSMUSP00000096109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000098509]

AlphaFold

Q3TPQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

probably damaging
Transcript: ENSMUST00000098509
AA Change: C413S

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

SMART Domains

Protein: ENSMUSP00000096109
Gene: ENSMUSG00000074166
AA Change: C413S

Domain	Start	End	E-Value	Type
KRAB	4	66	9.86e-14	SMART
ZnF_C2H2	75	97	9.08e1	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	4.72e-2	SMART
ZnF_C2H2	187	209	3.63e-3	SMART
ZnF_C2H2	215	237	8.47e-4	SMART
ZnF_C2H2	243	265	4.24e-4	SMART
ZnF_C2H2	271	293	5.81e-2	SMART
ZnF_C2H2	299	321	2.61e-4	SMART
ZnF_C2H2	327	349	2.12e-4	SMART
ZnF_C2H2	355	377	1.6e-4	SMART
ZnF_C2H2	383	405	8.47e-4	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205572

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
Bicdl2	G	A	17: 23,886,519 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fcamr	C	T	1: 130,740,757 (GRCm39)	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hapln3	A	C	7: 78,771,708 (GRCm39)	S60R	probably damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Pou3f2	A	T	4: 22,487,162 (GRCm39)	C324S	probably damaging	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Tent4b	C	A	8: 88,927,002 (GRCm39)	Y137*	probably null	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	Het

Other mutations in AW146154

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:AW146154	APN	7	41,129,883 (GRCm39)	missense	probably damaging	1.00
R3763:AW146154	UTSW	7	41,129,794 (GRCm39)	missense	probably damaging	1.00
R4829:AW146154	UTSW	7	41,130,057 (GRCm39)	missense	possibly damaging	0.62
R4835:AW146154	UTSW	7	41,129,892 (GRCm39)	missense	probably damaging	1.00
R5326:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5542:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5976:AW146154	UTSW	7	41,129,721 (GRCm39)	missense	probably damaging	0.99
R6252:AW146154	UTSW	7	41,130,811 (GRCm39)	missense	probably benign	0.10
R7006:AW146154	UTSW	7	41,130,648 (GRCm39)	missense	possibly damaging	0.50
R7053:AW146154	UTSW	7	41,131,988 (GRCm39)	critical splice donor site	probably null
R7096:AW146154	UTSW	7	41,130,867 (GRCm39)	missense	probably benign	0.32
R7649:AW146154	UTSW	7	41,130,156 (GRCm39)	missense	probably benign	0.13
R8069:AW146154	UTSW	7	41,129,935 (GRCm39)	missense	probably benign	0.01
R8085:AW146154	UTSW	7	41,130,622 (GRCm39)	missense	probably damaging	1.00
R8085:AW146154	UTSW	7	41,130,621 (GRCm39)	missense	possibly damaging	0.61
R8266:AW146154	UTSW	7	41,130,592 (GRCm39)	nonsense	probably null
R8698:AW146154	UTSW	7	41,129,934 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTCATCAGGGCATAATAAACAGGGATATAA -3'
(R):5'- GTCACAgtagtctccgaatacataaaagaaca -3'

Sequencing Primer
(F):5'- tggctcttgatttctaagattacac -3'
(R):5'- acataaaaggacacatacagcag -3'

Posted On

2014-02-11