Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:AW554918'

574065

Institutional Source

Beutler Lab

Gene Symbol

AW554918

Ensembl Gene

ENSMUSG00000033632

Gene Name

expressed sequence AW554918

Synonyms

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7399 (G1)

Quality Score

158.009

Status

Validated

Chromosome

Chromosomal Location

25168999-25467321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25169060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 10 (P10L)

Ref Sequence

ENSEMBL: ENSMUSP00000095248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000115817] [ENSMUST00000148255] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]

AlphaFold

Q6NZK5

Predicted Effect

probably benign
Transcript: ENSMUST00000036619
AA Change: P10L

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

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: P10L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097643
AA Change: P10L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: P10L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115817

SMART Domains

Protein: ENSMUSP00000111484
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART
low complexity region	253	264	N/A	INTRINSIC
low complexity region	271	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148255

SMART Domains

Protein: ENSMUSP00000122538
Gene: ENSMUSG00000024269

Domain	Start	End	E-Value	Type
SMI1_KNR4	43	187	1.04e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159605
AA Change: P10L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000160530
AA Change: P10L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165400
AA Change: P10L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: P10L

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

Meta Mutation Damage Score

0.0996

Coding Region Coverage

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

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cby2	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Or5g25	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Or6b1	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Or6c6	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Or8h10	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in AW554918

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:AW554918	APN	18	25,420,065 (GRCm38)	nonsense	probably null
IGL01443:AW554918	APN	18	25,344,955 (GRCm38)	missense	probably damaging	1.00
IGL01973:AW554918	APN	18	25,419,999 (GRCm38)	missense	probably damaging	1.00
IGL02743:AW554918	APN	18	25,289,944 (GRCm38)	nonsense	probably null
PIT4802001:AW554918	UTSW	18	25,340,075 (GRCm38)	missense	possibly damaging	0.90
R0081:AW554918	UTSW	18	25,344,902 (GRCm38)	missense	probably benign	0.00
R0567:AW554918	UTSW	18	25,400,035 (GRCm38)	missense	possibly damaging	0.83
R0709:AW554918	UTSW	18	25,463,654 (GRCm38)	missense	probably damaging	1.00
R1052:AW554918	UTSW	18	25,420,010 (GRCm38)	missense	probably benign	0.05
R1418:AW554918	UTSW	18	25,339,699 (GRCm38)	splice site	probably null
R1530:AW554918	UTSW	18	25,400,104 (GRCm38)	missense	probably damaging	0.97
R2406:AW554918	UTSW	18	25,340,287 (GRCm38)	missense	possibly damaging	0.95
R3414:AW554918	UTSW	18	25,400,072 (GRCm38)	missense	possibly damaging	0.76
R3815:AW554918	UTSW	18	25,400,047 (GRCm38)	missense	probably benign	0.42
R4683:AW554918	UTSW	18	25,339,795 (GRCm38)	missense	probably benign	0.04
R4722:AW554918	UTSW	18	25,174,715 (GRCm38)	nonsense	probably null
R4843:AW554918	UTSW	18	25,340,000 (GRCm38)	missense	probably benign	0.00
R5199:AW554918	UTSW	18	25,340,299 (GRCm38)	missense	probably damaging	1.00
R5279:AW554918	UTSW	18	25,175,431 (GRCm38)	missense	possibly damaging	0.95
R5580:AW554918	UTSW	18	25,339,865 (GRCm38)	missense	probably damaging	1.00
R7259:AW554918	UTSW	18	25,289,849 (GRCm38)	splice site	probably null
R7388:AW554918	UTSW	18	25,340,113 (GRCm38)	missense	probably benign	0.05
R8249:AW554918	UTSW	18	25,339,718 (GRCm38)	missense	probably benign	0.33
R8905:AW554918	UTSW	18	25,340,149 (GRCm38)	missense	probably damaging	1.00
R8916:AW554918	UTSW	18	25,289,992 (GRCm38)	missense	probably damaging	1.00
R9256:AW554918	UTSW	18	25,290,004 (GRCm38)	missense	probably damaging	1.00
R9794:AW554918	UTSW	18	25,203,974 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTTTTCAGCGCCTGAGGG -3'
(R):5'- GAGCCAGAATTCCCACCTAGAG -3'

Sequencing Primer
(F):5'- TTTGGCAGCGGCACTTC -3'
(R):5'- TTCCCACCTAGAGACACGTCG -3'

Posted On

2019-09-13