Mutagenetix > Incidental Mutation

Incidental Mutation 'R8820:Abca17'

673007

Institutional Source

Beutler Lab

Gene Symbol

Abca17

Ensembl Gene

ENSMUSG00000035435

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 17

Synonyms

MMRRC Submission

068653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24264259-24351029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24328602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 266 (L266P)

Ref Sequence

ENSEMBL: ENSMUSP00000046218 (fasta)

Gene Model

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

AlphaFold

E9PX95

Predicted Effect

probably damaging
Transcript: ENSMUST00000039324
AA Change: L266P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046218
Gene: ENSMUSG00000035435
AA Change: L266P

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: L266P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112538
Gene: ENSMUSG00000035435
AA Change: L266P

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,726,454 (GRCm38)	F873L	possibly damaging	Het
4930504O13Rik	T	G	11: 58,446,303 (GRCm38)	S115R	probably damaging	Het
Abcb1a	A	T	5: 8,723,204 (GRCm38)	T811S	possibly damaging	Het
Als2cl	T	C	9: 110,885,787 (GRCm38)	F125L	probably benign	Het
Arhgap33	T	C	7: 30,528,740 (GRCm38)	I406V	probably benign	Het
Cdyl	T	C	13: 35,858,191 (GRCm38)	I404T	probably damaging	Het
Clasrp	C	T	7: 19,586,437 (GRCm38)	R432H	unknown	Het
Clk2	T	A	3: 89,175,423 (GRCm38)	M392K	probably damaging	Het
Cps1	T	A	1: 67,228,280 (GRCm38)	N1402K	possibly damaging	Het
Cyp2u1	T	C	3: 131,298,367 (GRCm38)	H168R	probably damaging	Het
Dapl1	T	C	2: 59,504,712 (GRCm38)	L70P	probably damaging	Het
Ddr2	T	A	1: 169,977,914 (GRCm38)	K836*	probably null	Het
Dsel	A	G	1: 111,860,264 (GRCm38)	L847P	probably benign	Het
Fbxw17	A	T	13: 50,433,315 (GRCm38)	K437M	possibly damaging	Het
Fktn	T	C	4: 53,735,001 (GRCm38)	V174A	possibly damaging	Het
Frem1	C	A	4: 82,903,517 (GRCm38)	S2118I	probably damaging	Het
Fzd8	G	A	18: 9,213,247 (GRCm38)	V110M	unknown	Het
Gabrb3	T	C	7: 57,792,581 (GRCm38)	S212P	probably damaging	Het
Gimap9	A	G	6: 48,677,887 (GRCm38)	D136G	probably benign	Het
Gldc	C	G	19: 30,100,812 (GRCm38)	M928I	probably benign	Het
Hmmr	G	A	11: 40,721,672 (GRCm38)	S206F	probably damaging	Het
Ift46	C	T	9: 44,790,522 (GRCm38)	T283I	probably damaging	Het
Il1f8	C	T	2: 24,159,880 (GRCm38)	Q168*	probably null	Het
Ldb2	G	A	5: 44,799,415 (GRCm38)	Q27*	probably null	Het
Lmcd1	T	A	6: 112,329,809 (GRCm38)	I314N	probably damaging	Het
Mctp2	C	A	7: 72,229,333 (GRCm38)	V259L	probably benign	Het
Midn	T	G	10: 80,154,400 (GRCm38)	S302A	probably damaging	Het
Ncor2	A	G	5: 125,029,227 (GRCm38)	V797A		Het
Npm2	A	G	14: 70,648,328 (GRCm38)	S146P	probably damaging	Het
Npr1	G	A	3: 90,464,894 (GRCm38)	R204C	probably damaging	Het
Olfr338	T	C	2: 36,376,994 (GRCm38)	S73P	probably damaging	Het
Olfr353	C	A	2: 36,890,610 (GRCm38)	M79I	probably benign	Het
Olfr49	C	T	14: 54,282,613 (GRCm38)	G94D	probably benign	Het
Olfr665	T	A	7: 104,881,655 (GRCm38)	V316D	possibly damaging	Het
Orc2	T	C	1: 58,476,480 (GRCm38)	N290D	probably benign	Het
Paip2b	A	C	6: 83,814,756 (GRCm38)	M48R	probably damaging	Het
Pcdhb15	T	A	18: 37,473,918 (GRCm38)	S68T	probably benign	Het
Pcnx	T	A	12: 81,973,248 (GRCm38)	H715Q		Het
Pcsk2	T	A	2: 143,801,070 (GRCm38)	H422Q	probably damaging	Het
Pdzph1	G	C	17: 58,880,720 (GRCm38)	Y1168*	probably null	Het
Peli2	G	A	14: 48,252,673 (GRCm38)	E201K	possibly damaging	Het
Prelp	T	C	1: 133,915,140 (GRCm38)	N89S	probably damaging	Het
Proz	T	A	8: 13,063,253 (GRCm38)	F25I	probably damaging	Het
Rapgef3	T	C	15: 97,748,657 (GRCm38)	N799S	probably benign	Het
Ryr3	A	G	2: 112,859,724 (GRCm38)	V1180A	probably benign	Het
Ryr3	G	A	2: 112,635,792 (GRCm38)	R4795W	probably damaging	Het
Scn11a	T	C	9: 119,816,520 (GRCm38)	I123V	probably benign	Het
Sema4b	G	C	7: 80,220,500 (GRCm38)	E475D	probably damaging	Het
Serinc2	C	A	4: 130,255,379 (GRCm38)	M343I	probably damaging	Het
Serinc5	G	T	13: 92,708,036 (GRCm38)	V429F	probably benign	Het
Smyd2	T	A	1: 189,899,821 (GRCm38)	K115N	probably benign	Het
Tenm3	T	G	8: 48,310,724 (GRCm38)	D765A	probably damaging	Het
Tmem2	G	A	19: 21,807,454 (GRCm38)	V434M	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172 (GRCm38)		probably benign	Het
Ythdc2	C	T	18: 44,834,464 (GRCm38)	R176*	probably null	Het
Zfp27	T	C	7: 29,894,588 (GRCm38)	K651E	probably benign	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
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
R9388:Abca17	UTSW	17	24,264,299 (GRCm38)	missense	unknown
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'- GCAGTATCAAGAGACGGTACTC -3'
(R):5'- TTCCTGGCCATACAGCATGC -3'

Sequencing Primer
(F):5'- TCCCTCCTACAGATAAGAAAGTGTTC -3'
(R):5'- TGCCGTAGACAAAGCGATTATGC -3'

Posted On

2021-04-30