Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Acad11'

357109

Institutional Source

Beutler Lab

Gene Symbol

Acad11

Ensembl Gene

ENSMUSG00000090150

Gene Name

acyl-Coenzyme A dehydrogenase family, member 11

Synonyms

5730439E10Rik

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103940923-104004855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103953076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 102 (P102T)

Ref Sequence

ENSEMBL: ENSMUSP00000043424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000120854] [ENSMUST00000189998]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047799
AA Change: P102T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150
AA Change: P102T

Domain	Start	End	E-Value	Type
Pfam:APH	43	307	3.5e-45	PFAM
Pfam:Acyl-CoA_dh_N	376	498	1.5e-13	PFAM
Pfam:Acyl-CoA_dh_M	502	605	1.7e-21	PFAM
Pfam:Acyl-CoA_dh_1	617	768	2.7e-36	PFAM
Pfam:Acyl-CoA_dh_2	632	743	2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120854

SMART Domains

Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150

Domain	Start	End	E-Value	Type
Pfam:APH	1	188	1.1e-28	PFAM
Pfam:EcKinase	49	143	4.8e-9	PFAM
Pfam:Acyl-CoA_dh_N	257	380	8.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	385	439	2.4e-19	PFAM
Pfam:Acyl-CoA_dh_1	499	650	1.3e-37	PFAM
Pfam:Acyl-CoA_dh_2	514	632	2.7e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000147249
AA Change: P121T

SMART Domains

Protein: ENSMUSP00000115381
Gene: ENSMUSG00000101152
AA Change: P121T

Domain	Start	End	E-Value	Type
Pfam:TPR_12	1	48	3e-14	PFAM
Pfam:TPR_12	12	75	2.1e-14	PFAM
Pfam:TPR_10	15	56	7.8e-13	PFAM
Pfam:TPR_1	16	49	4.4e-9	PFAM
Pfam:TPR_7	18	58	7e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189998
AA Change: P102T

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.3763

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,122,029 (GRCm39)	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,056,396 (GRCm39)	V176G	probably benign	Het
Abcb1a	T	A	5: 8,765,732 (GRCm39)		probably null	Het
Aggf1	T	A	13: 95,501,221 (GRCm39)	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,248,496 (GRCm39)	V234I	probably benign	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,074,837 (GRCm39)	A41E	probably benign	Het
Axin1	C	A	17: 26,392,730 (GRCm39)	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,192,775 (GRCm39)	L1353P	probably damaging	Het
Bptf	A	T	11: 106,934,520 (GRCm39)	V2851E	probably damaging	Het
C9	A	T	15: 6,489,124 (GRCm39)	E160D	probably damaging	Het
Cbx6	T	C	15: 79,712,881 (GRCm39)	D182G	probably damaging	Het
Cep57l1	T	C	10: 41,597,678 (GRCm39)	R242G	possibly damaging	Het
Chst8	T	C	7: 34,375,149 (GRCm39)	D230G	probably damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Cst12	A	G	2: 148,631,393 (GRCm39)	E38G	possibly damaging	Het
Disp1	G	T	1: 182,869,660 (GRCm39)	A920E	probably damaging	Het
Dtna	T	G	18: 23,668,206 (GRCm39)		probably null	Het
Elp3	T	A	14: 65,820,378 (GRCm39)	H97L	probably damaging	Het
Exoc8	A	G	8: 125,624,314 (GRCm39)	F18L	possibly damaging	Het
Extl3	T	C	14: 65,314,769 (GRCm39)	T138A	probably benign	Het
Foxi2	G	T	7: 135,012,396 (GRCm39)	G95C	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Frem1	A	T	4: 82,907,426 (GRCm39)	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,608,259 (GRCm39)	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,200 (GRCm39)	*499K	probably null	Het
Galc	C	T	12: 98,209,003 (GRCm39)	G217D	possibly damaging	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,064,809 (GRCm39)	*521C	probably null	Het
Hnrnpul1	A	G	7: 25,442,436 (GRCm39)	S269P	probably benign	Het
Hrh1	T	C	6: 114,457,496 (GRCm39)	V259A	probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Mtf2	T	C	5: 108,241,218 (GRCm39)	I248T	probably benign	Het
Muc2	C	T	7: 141,299,345 (GRCm39)	T130M	possibly damaging	Het
Myo16	T	C	8: 10,485,880 (GRCm39)	F653S	probably damaging	Het
Myo1e	T	C	9: 70,250,417 (GRCm39)		probably null	Het
Myo5a	G	T	9: 75,023,618 (GRCm39)		probably benign	Het
Nlrp1b	T	A	11: 71,073,489 (GRCm39)	D118V	probably damaging	Het
Npat	T	C	9: 53,483,920 (GRCm39)	F1412S	probably damaging	Het
Onecut3	G	T	10: 80,331,541 (GRCm39)	A234S	unknown	Het
Or1ad1	G	A	11: 50,875,602 (GRCm39)	E25K	probably benign	Het
Or8b37	T	G	9: 37,959,436 (GRCm39)	L306R	probably benign	Het
Osbpl6	T	A	2: 76,376,344 (GRCm39)	I73K	probably damaging	Het
Otog	C	T	7: 45,937,943 (GRCm39)	T1884I	probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pias4	A	G	10: 80,999,868 (GRCm39)	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,809,687 (GRCm39)	V97D	possibly damaging	Het
Plekhf1	A	G	7: 37,921,022 (GRCm39)	V182A	probably damaging	Het
Plscr4	T	C	9: 92,366,833 (GRCm39)	V149A	probably damaging	Het
Polr2l	A	T	7: 141,053,309 (GRCm39)	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,596,250 (GRCm39)	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068 (GRCm38)	A311T	probably benign	Het
Raet1e	T	G	10: 22,057,231 (GRCm39)	I185R	probably damaging	Het
Rims1	A	C	1: 22,518,543 (GRCm39)	V520G	probably damaging	Het
Rp1	A	T	1: 4,416,101 (GRCm39)	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,587,868 (GRCm39)	I352N	probably damaging	Het
Rtp3	T	C	9: 110,816,418 (GRCm39)		probably benign	Het
Ryr3	T	A	2: 112,563,376 (GRCm39)		probably null	Het
Sall3	A	G	18: 81,017,691 (GRCm39)	V79A	probably damaging	Het
Sdsl	C	T	5: 120,600,119 (GRCm39)	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390 (GRCm39)	N197D	probably benign	Het
Slit1	T	A	19: 41,709,483 (GRCm39)	R137*	probably null	Het
Stxbp5	C	A	10: 9,646,367 (GRCm39)	R115L	probably damaging	Het
Tcea1	G	A	1: 4,965,167 (GRCm39)	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,325,338 (GRCm39)	T113S	probably damaging	Het
Tpp1	A	T	7: 105,398,458 (GRCm39)	I286N	probably damaging	Het
Trio	G	A	15: 27,732,624 (GRCm39)	R3086*	probably null	Het
Usp22	T	A	11: 61,051,462 (GRCm39)	N294Y	probably damaging	Het
Usp44	T	A	10: 93,681,933 (GRCm39)	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,653,384 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,304,372 (GRCm39)	Y1204C	possibly damaging	Het

Other mutations in Acad11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Acad11	APN	9	104,003,855 (GRCm39)	missense	probably damaging	1.00
IGL01100:Acad11	APN	9	103,953,607 (GRCm39)	missense	probably damaging	0.98
IGL01920:Acad11	APN	9	103,941,104 (GRCm39)	critical splice donor site	probably null
IGL02019:Acad11	APN	9	103,992,544 (GRCm39)	missense	probably damaging	1.00
IGL02506:Acad11	APN	9	103,968,931 (GRCm39)	critical splice donor site	probably null
IGL02742:Acad11	APN	9	103,972,824 (GRCm39)	missense	probably damaging	1.00
IGL02830:Acad11	APN	9	103,953,118 (GRCm39)	missense	probably damaging	1.00
IGL02936:Acad11	APN	9	103,990,711 (GRCm39)	missense	probably benign	0.31
R0092:Acad11	UTSW	9	103,967,540 (GRCm39)	splice site	probably benign
R0277:Acad11	UTSW	9	104,001,224 (GRCm39)	missense	probably damaging	1.00
R0377:Acad11	UTSW	9	103,958,891 (GRCm39)	splice site	probably benign
R0411:Acad11	UTSW	9	103,993,495 (GRCm39)	missense	probably damaging	1.00
R0556:Acad11	UTSW	9	103,992,501 (GRCm39)	missense	probably damaging	1.00
R0594:Acad11	UTSW	9	103,972,762 (GRCm39)	missense	probably benign	0.09
R0688:Acad11	UTSW	9	104,001,299 (GRCm39)	missense	probably damaging	1.00
R1416:Acad11	UTSW	9	103,950,822 (GRCm39)	missense	probably damaging	0.96
R1551:Acad11	UTSW	9	104,003,785 (GRCm39)	missense	probably damaging	0.99
R1730:Acad11	UTSW	9	103,941,081 (GRCm39)	missense	probably benign	0.02
R1819:Acad11	UTSW	9	103,991,738 (GRCm39)	critical splice donor site	probably null
R1884:Acad11	UTSW	9	103,991,684 (GRCm39)	missense	probably benign	0.13
R2411:Acad11	UTSW	9	103,963,222 (GRCm39)	intron	probably benign
R3055:Acad11	UTSW	9	103,953,535 (GRCm39)	missense	probably damaging	0.98
R3683:Acad11	UTSW	9	103,992,543 (GRCm39)	missense	probably damaging	1.00
R3954:Acad11	UTSW	9	103,963,351 (GRCm39)	intron	probably benign
R3956:Acad11	UTSW	9	103,963,351 (GRCm39)	intron	probably benign
R4425:Acad11	UTSW	9	103,950,844 (GRCm39)	missense	probably damaging	1.00
R4557:Acad11	UTSW	9	103,960,038 (GRCm39)	missense	probably benign	0.00
R4701:Acad11	UTSW	9	103,972,764 (GRCm39)	nonsense	probably null
R4872:Acad11	UTSW	9	103,963,465 (GRCm39)	intron	probably benign
R5132:Acad11	UTSW	9	104,003,791 (GRCm39)	missense	probably benign	0.03
R5161:Acad11	UTSW	9	104,001,227 (GRCm39)	missense	probably benign	0.19
R5222:Acad11	UTSW	9	103,974,576 (GRCm39)	missense	probably damaging	1.00
R5587:Acad11	UTSW	9	103,940,966 (GRCm39)	missense	probably benign
R5683:Acad11	UTSW	9	103,961,482 (GRCm39)	missense	probably damaging	1.00
R6512:Acad11	UTSW	9	103,972,758 (GRCm39)	nonsense	probably null
R6815:Acad11	UTSW	9	103,958,526 (GRCm39)	missense	probably benign	0.01
R7035:Acad11	UTSW	9	103,990,694 (GRCm39)	missense	probably damaging	1.00
R7318:Acad11	UTSW	9	103,958,466 (GRCm39)	missense	probably damaging	1.00
R7564:Acad11	UTSW	9	104,000,288 (GRCm39)	missense	possibly damaging	0.94
R7673:Acad11	UTSW	9	103,941,105 (GRCm39)	splice site	probably null
R7812:Acad11	UTSW	9	103,972,747 (GRCm39)	missense	probably benign	0.41
R7850:Acad11	UTSW	9	103,991,728 (GRCm39)	missense	probably damaging	1.00
R8037:Acad11	UTSW	9	103,953,035 (GRCm39)	missense	possibly damaging	0.93
R8251:Acad11	UTSW	9	103,968,906 (GRCm39)	missense	possibly damaging	0.88
R9021:Acad11	UTSW	9	104,003,864 (GRCm39)	missense	possibly damaging	0.88
R9657:Acad11	UTSW	9	103,953,035 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTACTGTCAGCTCTGGGTTAC -3'
(R):5'- TTCTATGTGGAAGGGTGCCTCC -3'

Sequencing Primer
(F):5'- GTCAGCTCTGGGTTACATATTGACAC -3'
(R):5'- ACATCCCCATCTCCCTGTTTGG -3'

Posted On

2015-11-11