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 (ABC1), 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

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24264299 bp (GRCm38)

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: 113,190,848 (GRCm38)	T433S	probably benign	Het
Abca14	A	G	7: 120,283,038 (GRCm38)	D1141G	probably benign	Het
Adam29	A	C	8: 55,872,250 (GRCm38)	C390G	probably damaging	Het
Angptl4	G	A	17: 33,777,184 (GRCm38)	R273*	probably null	Het
Arfgef3	T	C	10: 18,630,129 (GRCm38)	N929S	probably benign	Het
Baiap3	A	G	17: 25,247,135 (GRCm38)		probably null	Het
Btla	T	C	16: 45,239,091 (GRCm38)	S53P	probably damaging	Het
Cand1	A	G	10: 119,211,308 (GRCm38)	F759S	possibly damaging	Het
Cbll1	T	C	12: 31,491,568 (GRCm38)	T104A	probably benign	Het
Chd7	A	G	4: 8,865,756 (GRCm38)	M2688V	possibly damaging	Het
Cnot3	C	A	7: 3,658,368 (GRCm38)	H625Q	possibly damaging	Het
Dbn1	T	C	13: 55,476,275 (GRCm38)	I381V	probably benign	Het
Dennd2d	T	A	3: 106,488,599 (GRCm38)	N135K	possibly damaging	Het
Dnah7c	T	C	1: 46,740,726 (GRCm38)	I3196T	probably damaging	Het
Dock2	C	A	11: 34,262,460 (GRCm38)	R1227L	possibly damaging	Het
Esr1	A	G	10: 4,969,179 (GRCm38)	E423G	probably benign	Het
Ganab	A	G	19: 8,914,938 (GRCm38)	Q826R	probably damaging	Het
Herc4	T	A	10: 63,307,743 (GRCm38)	M684K	probably benign	Het
Hipk2	A	G	6: 38,731,021 (GRCm38)	L613P	probably damaging	Het
Hpf1	A	T	8: 60,900,148 (GRCm38)	I188L	probably benign	Het
Ifnar1	C	T	16: 91,495,479 (GRCm38)	P207L	probably benign	Het
Il4	C	T	11: 53,614,010 (GRCm38)	R76H	probably damaging	Het
Kif1a	C	A	1: 93,072,307 (GRCm38)		probably null	Het
Kng1	A	T	16: 23,079,638 (GRCm38)	Y596F	possibly damaging	Het
Lrrc8d	T	A	5: 105,813,996 (GRCm38)	H757Q	probably damaging	Het
Med24	A	T	11: 98,710,067 (GRCm38)	I600N	possibly damaging	Het
Mmp10	G	A	9: 7,504,169 (GRCm38)	W203*	probably null	Het
Mnt	C	T	11: 74,836,624 (GRCm38)	A112V	probably benign	Het
Myh7b	A	T	2: 155,631,063 (GRCm38)	N1415Y	probably benign	Het
Nipal1	T	A	5: 72,668,214 (GRCm38)	*417R	probably null	Het
Nlrp4c	C	T	7: 6,066,875 (GRCm38)	Q592*	probably null	Het
Obscn	T	C	11: 59,052,663 (GRCm38)	E4220G	probably damaging	Het
Olfr1369-ps1	T	C	13: 21,116,604 (GRCm38)	L304P	probably damaging	Het
Or10al7	C	T	17: 38,055,257 (GRCm38)	C103Y	probably damaging	Het
Or13a23-ps1	G	T	7: 140,539,015 (GRCm38)	C166F	unknown	Het
Or5aq6	A	T	2: 87,093,046 (GRCm38)	M117K	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,800 (GRCm38)	I460F	probably benign	Het
Prb1b	T	C	6: 132,312,474 (GRCm38)	Q129R	unknown	Het
Primpol	G	A	8: 46,581,570 (GRCm38)	T441I	possibly damaging	Het
Ptprc	A	G	1: 138,083,642 (GRCm38)	V583A	possibly damaging	Het
Rfx6	T	C	10: 51,678,021 (GRCm38)	V71A	possibly damaging	Het
Rgsl1	T	C	1: 153,817,609 (GRCm38)	I574V	probably benign	Het
Rims3	A	G	4: 120,891,355 (GRCm38)	I258V	possibly damaging	Het
Sec16b	T	C	1: 157,560,823 (GRCm38)	Y776H	probably benign	Het
Skint6	C	T	4: 113,192,641 (GRCm38)	D276N	possibly damaging	Het
Slc45a1	T	C	4: 150,642,610 (GRCm38)	D184G	probably damaging	Het
St6galnac4	A	T	2: 32,589,613 (GRCm38)	S61C	probably damaging	Het
Stab1	C	T	14: 31,154,355 (GRCm38)	V926M	probably damaging	Het
Stat1	A	T	1: 52,153,878 (GRCm38)	K642N	possibly damaging	Het
Tmprss3	A	G	17: 31,191,067 (GRCm38)	F191S	probably damaging	Het
Ube2o	T	C	11: 116,539,384 (GRCm38)	D1176G	possibly damaging	Het
Usp17ld	G	T	7: 103,250,938 (GRCm38)	N262K	probably benign	Het
Xpnpep1	T	C	19: 53,004,802 (GRCm38)	K365E	probably damaging	Het

Other mutations in Abca17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Abca17	APN	17	24,295,191 (GRCm38)	missense	probably benign	0.14
IGL00585:Abca17	APN	17	24,300,320 (GRCm38)	missense	probably damaging	0.99
IGL00941:Abca17	APN	17	24,317,130 (GRCm38)	missense	probably damaging	1.00
IGL01987:Abca17	APN	17	24,346,228 (GRCm38)	missense	probably benign	0.00
IGL01988:Abca17	APN	17	24,334,255 (GRCm38)	missense	probably damaging	0.99
IGL02223:Abca17	APN	17	24,287,935 (GRCm38)	nonsense	probably null
IGL02368:Abca17	APN	17	24,287,793 (GRCm38)	missense	probably benign	0.01
IGL02405:Abca17	APN	17	24,279,062 (GRCm38)	missense	possibly damaging	0.80
IGL02431:Abca17	APN	17	24,298,984 (GRCm38)	missense	probably benign	0.05
IGL02607:Abca17	APN	17	24,327,705 (GRCm38)	nonsense	probably null
IGL02706:Abca17	APN	17	24,298,992 (GRCm38)	missense	probably benign	0.00
IGL02729:Abca17	APN	17	24,280,481 (GRCm38)	missense	probably benign	0.06
IGL02818:Abca17	APN	17	24,300,352 (GRCm38)	missense	probably benign	0.02
IGL02891:Abca17	APN	17	24,281,366 (GRCm38)	missense	probably damaging	0.99
IGL03236:Abca17	APN	17	24,326,476 (GRCm38)	splice site	probably benign
IGL03299:Abca17	APN	17	24,265,591 (GRCm38)	missense	probably damaging	1.00
basin	UTSW	17	24,318,185 (GRCm38)	missense	probably benign	0.01
Bowl	UTSW	17	24,317,238 (GRCm38)	missense	probably benign	0.09
R0018:Abca17	UTSW	17	24,313,188 (GRCm38)	splice site	probably null
R0467:Abca17	UTSW	17	24,313,177 (GRCm38)	splice site	probably benign
R0671:Abca17	UTSW	17	24,281,249 (GRCm38)	missense	probably benign	0.00
R1175:Abca17	UTSW	17	24,289,351 (GRCm38)	missense	possibly damaging	0.91
R1397:Abca17	UTSW	17	24,285,759 (GRCm38)	missense	probably benign	0.18
R1398:Abca17	UTSW	17	24,328,537 (GRCm38)	missense	probably damaging	0.96
R1678:Abca17	UTSW	17	24,335,620 (GRCm38)	missense	probably benign	0.05
R1696:Abca17	UTSW	17	24,267,658 (GRCm38)	missense	possibly damaging	0.90
R1781:Abca17	UTSW	17	24,267,557 (GRCm38)	missense	possibly damaging	0.95
R1845:Abca17	UTSW	17	24,267,716 (GRCm38)	missense	probably damaging	1.00
R1970:Abca17	UTSW	17	24,307,575 (GRCm38)	missense	probably benign	0.00
R1997:Abca17	UTSW	17	24,285,726 (GRCm38)	missense	probably benign	0.02
R2141:Abca17	UTSW	17	24,334,266 (GRCm38)	missense	probably benign	0.00
R2199:Abca17	UTSW	17	24,335,624 (GRCm38)	missense	probably benign	0.19
R2394:Abca17	UTSW	17	24,281,216 (GRCm38)	splice site	probably null
R2442:Abca17	UTSW	17	24,328,632 (GRCm38)	missense	probably benign	0.02
R2509:Abca17	UTSW	17	24,289,613 (GRCm38)	splice site	probably benign
R2848:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2849:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2859:Abca17	UTSW	17	24,281,314 (GRCm38)	missense	possibly damaging	0.46
R2879:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R2935:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R3153:Abca17	UTSW	17	24,328,746 (GRCm38)	missense	probably damaging	1.00
R3154:Abca17	UTSW	17	24,328,746 (GRCm38)	missense	probably damaging	1.00
R3434:Abca17	UTSW	17	24,289,537 (GRCm38)	missense	probably damaging	1.00
R3695:Abca17	UTSW	17	24,289,507 (GRCm38)	missense	probably damaging	0.96
R3905:Abca17	UTSW	17	24,296,283 (GRCm38)	missense	probably benign	0.13
R4282:Abca17	UTSW	17	24,299,060 (GRCm38)	missense	possibly damaging	0.49
R4334:Abca17	UTSW	17	24,318,268 (GRCm38)	missense	probably damaging	1.00
R4350:Abca17	UTSW	17	24,279,046 (GRCm38)	critical splice donor site	probably null
R4548:Abca17	UTSW	17	24,334,271 (GRCm38)	missense	possibly damaging	0.82
R4626:Abca17	UTSW	17	24,321,084 (GRCm38)	missense	probably damaging	1.00
R4722:Abca17	UTSW	17	24,265,429 (GRCm38)	missense	probably damaging	1.00
R4745:Abca17	UTSW	17	24,307,453 (GRCm38)	missense	probably damaging	1.00
R4818:Abca17	UTSW	17	24,317,161 (GRCm38)	missense	probably damaging	0.98
R5279:Abca17	UTSW	17	24,289,414 (GRCm38)	missense	probably damaging	1.00
R5310:Abca17	UTSW	17	24,281,230 (GRCm38)	missense	probably benign	0.00
R5320:Abca17	UTSW	17	24,307,567 (GRCm38)	missense	probably damaging	1.00
R5435:Abca17	UTSW	17	24,267,614 (GRCm38)	missense	possibly damaging	0.90
R5622:Abca17	UTSW	17	24,327,668 (GRCm38)	missense	probably benign	0.14
R5776:Abca17	UTSW	17	24,295,158 (GRCm38)	missense	probably benign	0.09
R5928:Abca17	UTSW	17	24,318,185 (GRCm38)	missense	probably benign	0.01
R6013:Abca17	UTSW	17	24,287,846 (GRCm38)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,281,245 (GRCm38)	missense	possibly damaging	0.79
R6035:Abca17	UTSW	17	24,281,245 (GRCm38)	missense	possibly damaging	0.79
R6052:Abca17	UTSW	17	24,318,191 (GRCm38)	missense	probably benign	0.00
R6063:Abca17	UTSW	17	24,264,344 (GRCm38)	missense	unknown
R6404:Abca17	UTSW	17	24,265,918 (GRCm38)	missense	probably benign	0.13
R6746:Abca17	UTSW	17	24,346,221 (GRCm38)	nonsense	probably null
R6819:Abca17	UTSW	17	24,287,793 (GRCm38)	missense	probably benign	0.01
R6828:Abca17	UTSW	17	24,326,415 (GRCm38)	missense	possibly damaging	0.91
R7043:Abca17	UTSW	17	24,265,500 (GRCm38)	missense	probably damaging	1.00
R7065:Abca17	UTSW	17	24,327,751 (GRCm38)	missense	probably damaging	1.00
R7123:Abca17	UTSW	17	24,265,975 (GRCm38)	missense	probably damaging	1.00
R7157:Abca17	UTSW	17	24,335,590 (GRCm38)	missense	possibly damaging	0.46
R7188:Abca17	UTSW	17	24,335,626 (GRCm38)	missense	possibly damaging	0.89
R7294:Abca17	UTSW	17	24,321,009 (GRCm38)	missense	not run
R7352:Abca17	UTSW	17	24,289,054 (GRCm38)	nonsense	probably null
R7355:Abca17	UTSW	17	24,267,647 (GRCm38)	missense	probably benign	0.00
R7358:Abca17	UTSW	17	24,291,555 (GRCm38)	missense	probably benign	0.00
R7411:Abca17	UTSW	17	24,328,569 (GRCm38)	missense	possibly damaging	0.52
R7915:Abca17	UTSW	17	24,265,533 (GRCm38)	missense	probably damaging	1.00
R8039:Abca17	UTSW	17	24,328,725 (GRCm38)	missense	probably damaging	1.00
R8095:Abca17	UTSW	17	24,317,222 (GRCm38)	missense	possibly damaging	0.77
R8308:Abca17	UTSW	17	24,267,683 (GRCm38)	missense	probably damaging	1.00
R8517:Abca17	UTSW	17	24,317,233 (GRCm38)	missense	probably benign	0.00
R8811:Abca17	UTSW	17	24,317,238 (GRCm38)	missense	probably benign	0.09
R8819:Abca17	UTSW	17	24,328,602 (GRCm38)	missense	probably damaging	1.00
R8820:Abca17	UTSW	17	24,328,602 (GRCm38)	missense	probably damaging	1.00
R8953:Abca17	UTSW	17	24,299,041 (GRCm38)	missense	probably benign
R9095:Abca17	UTSW	17	24,281,396 (GRCm38)	missense	probably damaging	0.97
R9313:Abca17	UTSW	17	24,346,233 (GRCm38)	missense	probably benign	0.00
R9314:Abca17	UTSW	17	24,328,619 (GRCm38)	missense	possibly damaging	0.91
R9347:Abca17	UTSW	17	24,264,505 (GRCm38)	missense	probably benign
R9351:Abca17	UTSW	17	24,291,777 (GRCm38)	missense	probably benign	0.00
R9387:Abca17	UTSW	17	24,334,281 (GRCm38)	missense	probably benign	0.02
R9440:Abca17	UTSW	17	24,280,478 (GRCm38)	missense	probably benign	0.02
R9498:Abca17	UTSW	17	24,265,506 (GRCm38)	missense	probably damaging	1.00
R9654:Abca17	UTSW	17	24,317,125 (GRCm38)	missense	probably benign	0.09
R9709:Abca17	UTSW	17	24,298,960 (GRCm38)	missense	probably benign
R9770:Abca17	UTSW	17	24,295,147 (GRCm38)	missense	probably benign	0.00
R9773:Abca17	UTSW	17	24,289,591 (GRCm38)	missense	probably damaging	1.00
RF024:Abca17	UTSW	17	24,287,732 (GRCm38)	frame shift	probably null
RF029:Abca17	UTSW	17	24,287,727 (GRCm38)	critical splice donor site	probably benign
RF032:Abca17	UTSW	17	24,287,727 (GRCm38)	frame shift	probably null
RF036:Abca17	UTSW	17	24,287,727 (GRCm38)	critical splice donor site	probably benign
X0017:Abca17	UTSW	17	24,317,163 (GRCm38)	missense	probably benign	0.26
X0065:Abca17	UTSW	17	24,334,284 (GRCm38)	missense	probably damaging	1.00
Z1088:Abca17	UTSW	17	24,279,107 (GRCm38)	missense	probably benign	0.03
Z1088:Abca17	UTSW	17	24,279,079 (GRCm38)	missense	probably damaging	0.96
Z1088:Abca17	UTSW	17	24,346,219 (GRCm38)	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