Mutagenetix > Incidental Mutation

Incidental Mutation 'R2879:Abca17'

260257

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A member 17

Synonyms

MMRRC Submission

040467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24483233-24570042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 24508481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 1018 (T1018R)

Ref Sequence

ENSEMBL: ENSMUSP00000112538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039324] [ENSMUST00000121226]

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: T1018R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: T1018R

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:ABC2_membrane_3	252	464	9.5e-17	PFAM
AAA	547	729	5.71e-12	SMART
low complexity region	846	857	N/A	INTRINSIC
Pfam:ABC2_membrane_3	905	1307	6.7e-35	PFAM
low complexity region	1337	1351	N/A	INTRINSIC
AAA	1393	1577	1.15e-1	SMART
low complexity region	1697	1730	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121226
AA Change: T1018R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: T1018R

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
Pfam:ABC2_membrane_3	21	464	1.2e-15	PFAM
AAA	547	729	5.71e-12	SMART
low complexity region	846	857	N/A	INTRINSIC
Pfam:ABC2_membrane_3	905	1307	1.1e-32	PFAM
low complexity region	1337	1351	N/A	INTRINSIC
AAA	1393	1577	1.15e-1	SMART
low complexity region	1697	1730	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	A	7: 143,447,800 (GRCm39)	Y214*	probably null	Het
Akap9	A	G	5: 4,026,353 (GRCm39)		probably benign	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Arhgef10l	G	T	4: 140,242,598 (GRCm39)	H890Q	probably benign	Het
Ccnj	T	A	19: 40,833,158 (GRCm39)	L112Q	probably damaging	Het
Chaf1a	T	C	17: 56,351,114 (GRCm39)		probably null	Het
Chchd4	A	G	6: 91,442,200 (GRCm39)	S73P	probably damaging	Het
Chd3	T	C	11: 69,254,924 (GRCm39)	K139E	possibly damaging	Het
Cyp2b13	T	G	7: 25,785,456 (GRCm39)		probably null	Het
Dagla	T	C	19: 10,248,448 (GRCm39)	I71V	possibly damaging	Het
Epor	A	T	9: 21,870,936 (GRCm39)	W315R	probably damaging	Het
Etv1	T	A	12: 38,833,809 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,202,314 (GRCm39)	C1280S	probably damaging	Het
Fbxo2	G	C	4: 148,250,468 (GRCm39)	R269P	probably damaging	Het
Fer1l4	A	T	2: 155,894,120 (GRCm39)	L61Q	probably damaging	Het
Ggnbp2	C	T	11: 84,723,797 (GRCm39)		probably null	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Ibsp	G	A	5: 104,458,260 (GRCm39)	E266K	possibly damaging	Het
Lamb3	T	A	1: 193,013,092 (GRCm39)	M439K	possibly damaging	Het
Lnx1	C	T	5: 74,780,784 (GRCm39)	V246M	probably benign	Het
Lrrc32	A	G	7: 98,148,984 (GRCm39)	Q588R	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Med13	C	T	11: 86,189,988 (GRCm39)	A974T	possibly damaging	Het
Mogat2	A	T	7: 98,871,573 (GRCm39)	I246N	possibly damaging	Het
Myl2	T	C	5: 122,242,748 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or1p1c	T	A	11: 74,161,049 (GRCm39)	V278D	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pik3r2	A	G	8: 71,225,029 (GRCm39)	Y145H	probably benign	Het
Plg	A	G	17: 12,622,987 (GRCm39)	E509G	possibly damaging	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ros1	C	T	10: 52,048,936 (GRCm39)		probably null	Het
Sbno1	A	G	5: 124,526,635 (GRCm39)	M960T	probably damaging	Het
Smad1	T	C	8: 80,080,084 (GRCm39)		probably null	Het
Ssc5d	G	A	7: 4,939,906 (GRCm39)		probably null	Het
Tfcp2	C	T	15: 100,449,201 (GRCm39)		probably null	Het
Tmem121	A	G	12: 113,152,028 (GRCm39)	Y82C	probably damaging	Het
Tmem131	T	C	1: 36,880,788 (GRCm39)	I161V	possibly damaging	Het
Tpp2	T	A	1: 44,010,783 (GRCm39)	F523L	probably damaging	Het
Ttn	C	T	2: 76,601,849 (GRCm39)		silent	Het
Ttpal	A	G	2: 163,457,503 (GRCm39)		probably null	Het
Vdr	T	A	15: 97,757,008 (GRCm39)	Y288F	probably benign	Het
Wipf2	C	T	11: 98,783,480 (GRCm39)	A302V	probably benign	Het
Zfp346	T	G	13: 55,253,163 (GRCm39)	C3G	possibly damaging	Het

Other mutations in Abca17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca17	APN	17	24,514,165 (GRCm39)	missense	probably benign	0.14
IGL00585:Abca17	APN	17	24,519,294 (GRCm39)	missense	probably damaging	0.99
IGL00941:Abca17	APN	17	24,536,104 (GRCm39)	missense	probably damaging	1.00
IGL01987:Abca17	APN	17	24,565,202 (GRCm39)	missense	probably benign	0.00
IGL01988:Abca17	APN	17	24,553,229 (GRCm39)	missense	probably damaging	0.99
IGL02223:Abca17	APN	17	24,506,909 (GRCm39)	nonsense	probably null
IGL02368:Abca17	APN	17	24,506,767 (GRCm39)	missense	probably benign	0.01
IGL02405:Abca17	APN	17	24,498,036 (GRCm39)	missense	possibly damaging	0.80
IGL02431:Abca17	APN	17	24,517,958 (GRCm39)	missense	probably benign	0.05
IGL02607:Abca17	APN	17	24,546,679 (GRCm39)	nonsense	probably null
IGL02706:Abca17	APN	17	24,517,966 (GRCm39)	missense	probably benign	0.00
IGL02729:Abca17	APN	17	24,499,455 (GRCm39)	missense	probably benign	0.06
IGL02818:Abca17	APN	17	24,519,326 (GRCm39)	missense	probably benign	0.02
IGL02891:Abca17	APN	17	24,500,340 (GRCm39)	missense	probably damaging	0.99
IGL03236:Abca17	APN	17	24,545,450 (GRCm39)	splice site	probably benign
IGL03299:Abca17	APN	17	24,484,565 (GRCm39)	missense	probably damaging	1.00
basin	UTSW	17	24,537,159 (GRCm39)	missense	probably benign	0.01
Bowl	UTSW	17	24,536,212 (GRCm39)	missense	probably benign	0.09
R0018:Abca17	UTSW	17	24,532,162 (GRCm39)	splice site	probably null
R0467:Abca17	UTSW	17	24,532,151 (GRCm39)	splice site	probably benign
R0671:Abca17	UTSW	17	24,500,223 (GRCm39)	missense	probably benign	0.00
R1175:Abca17	UTSW	17	24,508,325 (GRCm39)	missense	possibly damaging	0.91
R1397:Abca17	UTSW	17	24,504,733 (GRCm39)	missense	probably benign	0.18
R1398:Abca17	UTSW	17	24,547,511 (GRCm39)	missense	probably damaging	0.96
R1678:Abca17	UTSW	17	24,554,594 (GRCm39)	missense	probably benign	0.05
R1696:Abca17	UTSW	17	24,486,632 (GRCm39)	missense	possibly damaging	0.90
R1781:Abca17	UTSW	17	24,486,531 (GRCm39)	missense	possibly damaging	0.95
R1845:Abca17	UTSW	17	24,486,690 (GRCm39)	missense	probably damaging	1.00
R1970:Abca17	UTSW	17	24,526,549 (GRCm39)	missense	probably benign	0.00
R1997:Abca17	UTSW	17	24,504,700 (GRCm39)	missense	probably benign	0.02
R2141:Abca17	UTSW	17	24,553,240 (GRCm39)	missense	probably benign	0.00
R2199:Abca17	UTSW	17	24,554,598 (GRCm39)	missense	probably benign	0.19
R2394:Abca17	UTSW	17	24,500,190 (GRCm39)	splice site	probably null
R2442:Abca17	UTSW	17	24,547,606 (GRCm39)	missense	probably benign	0.02
R2509:Abca17	UTSW	17	24,508,587 (GRCm39)	splice site	probably benign
R2848:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R2849:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R2859:Abca17	UTSW	17	24,500,288 (GRCm39)	missense	possibly damaging	0.46
R2935:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R3153:Abca17	UTSW	17	24,547,720 (GRCm39)	missense	probably damaging	1.00
R3154:Abca17	UTSW	17	24,547,720 (GRCm39)	missense	probably damaging	1.00
R3434:Abca17	UTSW	17	24,508,511 (GRCm39)	missense	probably damaging	1.00
R3695:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
R3905:Abca17	UTSW	17	24,515,257 (GRCm39)	missense	probably benign	0.13
R4282:Abca17	UTSW	17	24,518,034 (GRCm39)	missense	possibly damaging	0.49
R4334:Abca17	UTSW	17	24,537,242 (GRCm39)	missense	probably damaging	1.00
R4350:Abca17	UTSW	17	24,498,020 (GRCm39)	critical splice donor site	probably null
R4548:Abca17	UTSW	17	24,553,245 (GRCm39)	missense	possibly damaging	0.82
R4626:Abca17	UTSW	17	24,540,058 (GRCm39)	missense	probably damaging	1.00
R4722:Abca17	UTSW	17	24,484,403 (GRCm39)	missense	probably damaging	1.00
R4745:Abca17	UTSW	17	24,526,427 (GRCm39)	missense	probably damaging	1.00
R4818:Abca17	UTSW	17	24,536,135 (GRCm39)	missense	probably damaging	0.98
R5279:Abca17	UTSW	17	24,508,388 (GRCm39)	missense	probably damaging	1.00
R5310:Abca17	UTSW	17	24,500,204 (GRCm39)	missense	probably benign	0.00
R5320:Abca17	UTSW	17	24,526,541 (GRCm39)	missense	probably damaging	1.00
R5435:Abca17	UTSW	17	24,486,588 (GRCm39)	missense	possibly damaging	0.90
R5622:Abca17	UTSW	17	24,546,642 (GRCm39)	missense	probably benign	0.14
R5776:Abca17	UTSW	17	24,514,132 (GRCm39)	missense	probably benign	0.09
R5928:Abca17	UTSW	17	24,537,159 (GRCm39)	missense	probably benign	0.01
R6013:Abca17	UTSW	17	24,506,820 (GRCm39)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,500,219 (GRCm39)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,500,219 (GRCm39)	missense	possibly damaging	0.79
R6052:Abca17	UTSW	17	24,537,165 (GRCm39)	missense	probably benign	0.00
R6063:Abca17	UTSW	17	24,483,318 (GRCm39)	missense	unknown
R6404:Abca17	UTSW	17	24,484,892 (GRCm39)	missense	probably benign	0.13
R6746:Abca17	UTSW	17	24,565,195 (GRCm39)	nonsense	probably null
R6819:Abca17	UTSW	17	24,506,767 (GRCm39)	missense	probably benign	0.01
R6828:Abca17	UTSW	17	24,545,389 (GRCm39)	missense	possibly damaging	0.91
R7043:Abca17	UTSW	17	24,484,474 (GRCm39)	missense	probably damaging	1.00
R7065:Abca17	UTSW	17	24,546,725 (GRCm39)	missense	probably damaging	1.00
R7123:Abca17	UTSW	17	24,484,949 (GRCm39)	missense	probably damaging	1.00
R7157:Abca17	UTSW	17	24,554,564 (GRCm39)	missense	possibly damaging	0.46
R7188:Abca17	UTSW	17	24,554,600 (GRCm39)	missense	possibly damaging	0.89
R7294:Abca17	UTSW	17	24,539,983 (GRCm39)	missense	not run
R7352:Abca17	UTSW	17	24,508,028 (GRCm39)	nonsense	probably null
R7355:Abca17	UTSW	17	24,486,621 (GRCm39)	missense	probably benign	0.00
R7358:Abca17	UTSW	17	24,510,529 (GRCm39)	missense	probably benign	0.00
R7411:Abca17	UTSW	17	24,547,543 (GRCm39)	missense	possibly damaging	0.52
R7915:Abca17	UTSW	17	24,484,507 (GRCm39)	missense	probably damaging	1.00
R8039:Abca17	UTSW	17	24,547,699 (GRCm39)	missense	probably damaging	1.00
R8095:Abca17	UTSW	17	24,536,196 (GRCm39)	missense	possibly damaging	0.77
R8308:Abca17	UTSW	17	24,486,657 (GRCm39)	missense	probably damaging	1.00
R8517:Abca17	UTSW	17	24,536,207 (GRCm39)	missense	probably benign	0.00
R8811:Abca17	UTSW	17	24,536,212 (GRCm39)	missense	probably benign	0.09
R8819:Abca17	UTSW	17	24,547,576 (GRCm39)	missense	probably damaging	1.00
R8820:Abca17	UTSW	17	24,547,576 (GRCm39)	missense	probably damaging	1.00
R8953:Abca17	UTSW	17	24,518,015 (GRCm39)	missense	probably benign
R9095:Abca17	UTSW	17	24,500,370 (GRCm39)	missense	probably damaging	0.97
R9313:Abca17	UTSW	17	24,565,207 (GRCm39)	missense	probably benign	0.00
R9314:Abca17	UTSW	17	24,547,593 (GRCm39)	missense	possibly damaging	0.91
R9347:Abca17	UTSW	17	24,483,479 (GRCm39)	missense	probably benign
R9351:Abca17	UTSW	17	24,510,751 (GRCm39)	missense	probably benign	0.00
R9387:Abca17	UTSW	17	24,553,255 (GRCm39)	missense	probably benign	0.02
R9388:Abca17	UTSW	17	24,483,273 (GRCm39)	missense	unknown
R9440:Abca17	UTSW	17	24,499,452 (GRCm39)	missense	probably benign	0.02
R9498:Abca17	UTSW	17	24,484,480 (GRCm39)	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24,536,099 (GRCm39)	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24,517,934 (GRCm39)	missense	probably benign
R9770:Abca17	UTSW	17	24,514,121 (GRCm39)	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24,508,565 (GRCm39)	missense	probably damaging	1.00
RF024:Abca17	UTSW	17	24,506,706 (GRCm39)	frame shift	probably null
RF029:Abca17	UTSW	17	24,506,701 (GRCm39)	critical splice donor site	probably benign
RF032:Abca17	UTSW	17	24,506,701 (GRCm39)	frame shift	probably null
RF036:Abca17	UTSW	17	24,506,701 (GRCm39)	critical splice donor site	probably benign
X0017:Abca17	UTSW	17	24,536,137 (GRCm39)	missense	probably benign	0.26
X0065:Abca17	UTSW	17	24,553,258 (GRCm39)	missense	probably damaging	1.00
Z1088:Abca17	UTSW	17	24,498,081 (GRCm39)	missense	probably benign	0.03
Z1088:Abca17	UTSW	17	24,498,053 (GRCm39)	missense	probably damaging	0.96
Z1088:Abca17	UTSW	17	24,565,193 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGAAAGCAACTGTGACTAGC -3'
(R):5'- AGTGTACTGTGTGCCACTGG -3'

Sequencing Primer
(F):5'- GAAAGGCAGTCTCACGCACTG -3'
(R):5'- ACTGGGCCTGGTGCGATG -3'

Posted On

2015-01-23