Mutagenetix > Incidental Mutation

Incidental Mutation 'R9388:Abca17'

710454

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A member 17

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9388 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

24483233-24570042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24483273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1728 (S1728P)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

unknown
Transcript: ENSMUST00000039324
AA Change: S1728P

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: S1728P

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

unknown
Transcript: ENSMUST00000121226
AA Change: S1728P

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: S1728P

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,338,714 (GRCm39)	T433S	probably benign	Het
Abca14	A	G	7: 119,882,261 (GRCm39)	D1141G	probably benign	Het
Adam29	A	C	8: 56,325,285 (GRCm39)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,996,158 (GRCm39)	R273*	probably null	Het
Arfgef3	T	C	10: 18,505,877 (GRCm39)	N929S	probably benign	Het
Baiap3	A	G	17: 25,466,109 (GRCm39)		probably null	Het
Btla	T	C	16: 45,059,454 (GRCm39)	S53P	probably damaging	Het
Cand1	A	G	10: 119,047,213 (GRCm39)	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,541,567 (GRCm39)	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756 (GRCm39)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,661,367 (GRCm39)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,624,088 (GRCm39)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,395,915 (GRCm39)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,779,886 (GRCm39)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,212,460 (GRCm39)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,919,179 (GRCm39)	E423G	probably benign	Het
Ganab	A	G	19: 8,892,302 (GRCm39)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,143,522 (GRCm39)	M684K	probably benign	Het
Hipk2	A	G	6: 38,707,956 (GRCm39)	L613P	probably damaging	Het
Hpf1	A	T	8: 61,353,182 (GRCm39)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,000,029 (GRCm39)		probably null	Het
Kng1	A	T	16: 22,898,388 (GRCm39)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,961,862 (GRCm39)	H757Q	probably damaging	Het
Med24	A	T	11: 98,600,893 (GRCm39)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,170 (GRCm39)	W203*	probably null	Het
Mnt	C	T	11: 74,727,450 (GRCm39)	A112V	probably benign	Het
Myh7b	A	T	2: 155,472,983 (GRCm39)	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,825,557 (GRCm39)	*417R	probably null	Het
Nlrp4c	C	T	7: 6,069,874 (GRCm39)	Q592*	probably null	Het
Obscn	T	C	11: 58,943,489 (GRCm39)	E4220G	probably damaging	Het
Or10al7	C	T	17: 38,366,148 (GRCm39)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,118,928 (GRCm39)	C166F	unknown	Het
Or2w1b	T	C	13: 21,300,774 (GRCm39)	L304P	probably damaging	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,853 (GRCm39)	I460F	probably benign	Het
Prb1b	T	C	6: 132,289,437 (GRCm39)	Q129R	unknown	Het
Primpol	G	A	8: 47,034,605 (GRCm39)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,011,380 (GRCm39)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,554,117 (GRCm39)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,693,355 (GRCm39)	I574V	probably benign	Het
Rims3	A	G	4: 120,748,552 (GRCm39)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,388,393 (GRCm39)	Y776H	probably benign	Het
Skint6	C	T	4: 113,049,838 (GRCm39)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,727,067 (GRCm39)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,479,625 (GRCm39)	S61C	probably damaging	Het
Stab1	C	T	14: 30,876,312 (GRCm39)	V926M	probably damaging	Het
Stat1	A	T	1: 52,193,037 (GRCm39)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,410,041 (GRCm39)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,430,210 (GRCm39)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 102,900,145 (GRCm39)	N262K	probably benign	Het
Xpnpep1	T	C	19: 52,993,233 (GRCm39)	K365E	probably 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
R2879:Abca17	UTSW	17	24,508,481 (GRCm39)	missense	probably damaging	0.96
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
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'- CCTGTGGGAGCTGCTTTAAG -3'
(R):5'- CATGTTGGAAGACTACTCCATCAG -3'

Sequencing Primer
(F):5'- AAGAGCTGTCATCTTGACCTC -3'
(R):5'- TCAGCCAGCTATCCCTAGAGG -3'

Posted On

2022-04-18