Mutagenetix > Incidental Mutation

Incidental Mutation 'R4683:AW554918'

350143

Institutional Source

Beutler Lab

Gene Symbol

AW554918

Ensembl Gene

ENSMUSG00000033632

Gene Name

expressed sequence AW554918

Synonyms

MMRRC Submission

041935-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25302056-25600378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25472852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 219 (Y219H)

Ref Sequence

ENSEMBL: ENSMUSP00000095248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]

AlphaFold

Q6NZK5

Predicted Effect

probably benign
Transcript: ENSMUST00000036619
AA Change: Y219H

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

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: Y219H

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.4e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097643
AA Change: Y219H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: Y219H

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	2.5e-154	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100131
AA Change: Y16H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: Y16H

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	1	211	9.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159605

Predicted Effect

probably benign
Transcript: ENSMUST00000160530

Predicted Effect

probably benign
Transcript: ENSMUST00000165400
AA Change: Y219H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: Y219H

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.6e-160	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,709 (GRCm39)	V56A	probably damaging	Het
Acyp1	A	G	12: 85,325,717 (GRCm39)		probably benign	Het
Adgrb1	A	T	15: 74,459,963 (GRCm39)	K532I	probably damaging	Het
Ahrr	T	A	13: 74,372,885 (GRCm39)		silent	Het
Asz1	T	C	6: 18,055,541 (GRCm39)		probably benign	Het
Ccno	C	A	13: 113,125,543 (GRCm39)		probably null	Het
Cdh17	A	T	4: 11,817,036 (GRCm39)	N816Y	possibly damaging	Het
Clca4a	C	T	3: 144,660,701 (GRCm39)	V708I	probably damaging	Het
Col6a3	T	A	1: 90,701,179 (GRCm39)	Y2579F	unknown	Het
Col6a4	A	G	9: 105,957,329 (GRCm39)	V165A	probably benign	Het
Csf1r	T	A	18: 61,257,983 (GRCm39)	C651S	probably damaging	Het
Cyp4f14	T	C	17: 33,126,985 (GRCm39)	D315G	probably null	Het
Def6	A	G	17: 28,436,609 (GRCm39)	D91G	probably damaging	Het
Dmxl1	T	G	18: 50,011,088 (GRCm39)	S1082A	probably damaging	Het
Dnah2	A	T	11: 69,349,768 (GRCm39)	Y2392N	probably damaging	Het
Dsg4	T	C	18: 20,594,466 (GRCm39)	S532P	probably benign	Het
Efr3a	C	A	15: 65,691,650 (GRCm39)	S126R	probably damaging	Het
Gab1	A	C	8: 81,515,261 (GRCm39)	H352Q	probably benign	Het
Gm1110	A	G	9: 26,831,890 (GRCm39)	M87T	probably damaging	Het
Greb1	C	T	12: 16,761,774 (GRCm39)	M535I	possibly damaging	Het
Greb1l	T	A	18: 10,529,563 (GRCm39)		probably null	Het
Gucy2d	T	C	7: 98,102,650 (GRCm39)	C487R	probably benign	Het
H1f7	A	T	15: 98,154,921 (GRCm39)	I76N	probably damaging	Het
Lrrc2	A	T	9: 110,791,614 (GRCm39)	H122L	possibly damaging	Het
Mrps22	A	T	9: 98,480,359 (GRCm39)		probably null	Het
Mxd3	T	C	13: 55,473,613 (GRCm39)	T202A	probably benign	Het
Neb	T	C	2: 52,134,074 (GRCm39)	H3303R	possibly damaging	Het
Nup133	G	A	8: 124,657,721 (GRCm39)	R405*	probably null	Het
Or13a19	T	C	7: 139,902,681 (GRCm39)	L23P	probably benign	Het
Or14j6	A	G	17: 38,215,039 (GRCm39)	T201A	probably benign	Het
Pard3b	T	C	1: 62,255,675 (GRCm39)	Y629H	probably benign	Het
Pcnx1	A	G	12: 82,033,446 (GRCm39)	D1781G	probably benign	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Pcsk9	A	T	4: 106,316,092 (GRCm39)	I117N	possibly damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Pfkfb2	T	A	1: 130,634,221 (GRCm39)		probably null	Het
Pi4ka	T	C	16: 17,114,901 (GRCm39)	E1456G	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Sh2b2	C	T	5: 136,260,574 (GRCm39)	C214Y	probably damaging	Het
Slc52a2	C	A	15: 76,424,433 (GRCm39)	P224T	probably damaging	Het
Slf2	C	G	19: 44,923,920 (GRCm39)	R245G	probably benign	Het
Sox5	T	C	6: 143,779,193 (GRCm39)	S648G	probably damaging	Het
Stk36	T	A	1: 74,673,344 (GRCm39)	I1079N	probably benign	Het
Stxbp3	T	C	3: 108,708,188 (GRCm39)	D371G	probably damaging	Het
Trnau1ap	A	T	4: 132,049,063 (GRCm39)	Y47N	probably damaging	Het
Ubr5	C	T	15: 38,038,211 (GRCm39)	R316H	probably damaging	Het
Vmn1r230	C	T	17: 21,067,515 (GRCm39)	R235C	probably benign	Het
Wnt10a	C	T	1: 74,842,296 (GRCm39)	H93Y	unknown	Het
Zfp1005	T	A	2: 150,108,390 (GRCm39)	H50Q	possibly damaging	Het
Zfp52	A	G	17: 21,781,769 (GRCm39)	D539G	probably benign	Het

Other mutations in AW554918

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:AW554918	APN	18	25,553,122 (GRCm39)	nonsense	probably null
IGL01443:AW554918	APN	18	25,478,012 (GRCm39)	missense	probably damaging	1.00
IGL01973:AW554918	APN	18	25,553,056 (GRCm39)	missense	probably damaging	1.00
IGL02743:AW554918	APN	18	25,423,001 (GRCm39)	nonsense	probably null
PIT4802001:AW554918	UTSW	18	25,473,132 (GRCm39)	missense	possibly damaging	0.90
R0081:AW554918	UTSW	18	25,477,959 (GRCm39)	missense	probably benign	0.00
R0567:AW554918	UTSW	18	25,533,092 (GRCm39)	missense	possibly damaging	0.83
R0709:AW554918	UTSW	18	25,596,711 (GRCm39)	missense	probably damaging	1.00
R1052:AW554918	UTSW	18	25,553,067 (GRCm39)	missense	probably benign	0.05
R1418:AW554918	UTSW	18	25,472,756 (GRCm39)	splice site	probably null
R1530:AW554918	UTSW	18	25,533,161 (GRCm39)	missense	probably damaging	0.97
R2406:AW554918	UTSW	18	25,473,344 (GRCm39)	missense	possibly damaging	0.95
R3414:AW554918	UTSW	18	25,533,129 (GRCm39)	missense	possibly damaging	0.76
R3815:AW554918	UTSW	18	25,533,104 (GRCm39)	missense	probably benign	0.42
R4722:AW554918	UTSW	18	25,307,772 (GRCm39)	nonsense	probably null
R4843:AW554918	UTSW	18	25,473,057 (GRCm39)	missense	probably benign	0.00
R5199:AW554918	UTSW	18	25,473,356 (GRCm39)	missense	probably damaging	1.00
R5279:AW554918	UTSW	18	25,308,488 (GRCm39)	missense	possibly damaging	0.95
R5580:AW554918	UTSW	18	25,472,922 (GRCm39)	missense	probably damaging	1.00
R7259:AW554918	UTSW	18	25,422,906 (GRCm39)	splice site	probably null
R7388:AW554918	UTSW	18	25,473,170 (GRCm39)	missense	probably benign	0.05
R7399:AW554918	UTSW	18	25,302,117 (GRCm39)	missense	possibly damaging	0.67
R8249:AW554918	UTSW	18	25,472,775 (GRCm39)	missense	probably benign	0.33
R8905:AW554918	UTSW	18	25,473,206 (GRCm39)	missense	probably damaging	1.00
R8916:AW554918	UTSW	18	25,423,049 (GRCm39)	missense	probably damaging	1.00
R9256:AW554918	UTSW	18	25,423,061 (GRCm39)	missense	probably damaging	1.00
R9794:AW554918	UTSW	18	25,337,031 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCTATAGCTTTGCTGAAAGATAG -3'
(R):5'- GCATTTATTAGTCTTCTCCCCAGAG -3'

Sequencing Primer
(F):5'- GGATGTTGCTTTATAAACATTGACGG -3'
(R):5'- TCTCCCCAGAGATTCATAAGTACATG -3'

Posted On

2015-10-08