Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:Abca14'

426760

Institutional Source

Beutler Lab

Gene Symbol

Abca14

Ensembl Gene

ENSMUSG00000062017

Gene Name

ATP-binding cassette, sub-family A member 14

Synonyms

1700110B15Rik, 4930539G24Rik

MMRRC Submission

042990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119810777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 119 (Y119H)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084640]

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: Y119H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: Y119H

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	24	463	5.7e-23	PFAM
AAA	548	729	1.59e-10	SMART
Pfam:ABC2_membrane_3	902	1296	1.2e-36	PFAM
AAA	1384	1568	1.33e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130646

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143257

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,678 (GRCm39)	A300D	probably damaging	Het
Actb	A	G	5: 142,891,306 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,570,045 (GRCm39)	K323*	probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Aire	A	T	10: 77,872,553 (GRCm39)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,969,443 (GRCm39)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Clca3a2	A	G	3: 144,789,942 (GRCm39)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,400,260 (GRCm39)	M345L	probably benign	Het
Ddx54	T	C	5: 120,757,926 (GRCm39)		probably null	Het
Dnah14	T	G	1: 181,590,875 (GRCm39)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,046,251 (GRCm39)	Y483*	probably null	Het
Ermard	T	A	17: 15,280,032 (GRCm39)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,843,644 (GRCm39)	H867N	unknown	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gas8	C	A	8: 124,253,251 (GRCm39)	L200I	possibly damaging	Het
Gfra2	A	T	14: 71,133,287 (GRCm39)	D39V	probably damaging	Het
Gm10770	T	C	2: 150,020,948 (GRCm39)	T190A	probably benign	Het
Gm2617	T	C	19: 9,301,320 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,805,017 (GRCm39)		probably benign	Het
Gmppb	T	A	9: 107,929,204 (GRCm39)		probably null	Het
Ifit2	T	A	19: 34,551,458 (GRCm39)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,271,550 (GRCm39)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,758,141 (GRCm39)		noncoding transcript	Het
Kdelr2	A	C	5: 143,403,899 (GRCm39)	E96A	probably benign	Het
Lama2	G	A	10: 26,860,392 (GRCm39)	R3032C	probably damaging	Het
Lipg	T	A	18: 75,087,324 (GRCm39)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,628,569 (GRCm39)	V305A	probably damaging	Het
Marveld2	T	C	13: 100,748,695 (GRCm39)	H128R	probably benign	Het
Mgat4a	A	G	1: 37,505,636 (GRCm39)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,971,094 (GRCm39)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 41,059,873 (GRCm39)	V80A	probably benign	Het
Ndrg2	A	G	14: 52,146,342 (GRCm39)	S153P	probably damaging	Het
Nelfa	C	T	5: 34,079,189 (GRCm39)		probably null	Het
Nes	G	T	3: 87,886,131 (GRCm39)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,629,223 (GRCm39)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,492,807 (GRCm39)	I254K	probably benign	Het
Or56b35	T	C	7: 104,963,778 (GRCm39)	V189A	possibly damaging	Het
Or8k24	G	A	2: 86,216,184 (GRCm39)	Q193*	probably null	Het
Pcdhga7	G	A	18: 37,848,388 (GRCm39)	A132T	probably benign	Het
Pla1a	T	A	16: 38,235,137 (GRCm39)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,372,075 (GRCm39)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,861,047 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,330,800 (GRCm39)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,006,471 (GRCm39)	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,297,565 (GRCm39)	A111S	probably benign	Het
Srcin1	T	A	11: 97,427,885 (GRCm39)	K236*	probably null	Het
Tbxas1	A	G	6: 39,004,839 (GRCm39)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,146,275 (GRCm39)	I116T	possibly damaging	Het
Tgm7	T	A	2: 120,929,522 (GRCm39)	M251L	probably damaging	Het
Tnn	T	A	1: 159,950,272 (GRCm39)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,855 (GRCm39)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,481,875 (GRCm39)	H1351N	possibly damaging	Het

Other mutations in Abca14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Abca14	APN	7	119,846,076 (GRCm39)	missense	probably damaging	1.00
IGL00800:Abca14	APN	7	119,854,613 (GRCm39)	missense	probably benign	0.01
IGL00845:Abca14	APN	7	119,823,174 (GRCm39)	splice site	probably benign
IGL00897:Abca14	APN	7	119,815,348 (GRCm39)	splice site	probably benign
IGL01524:Abca14	APN	7	119,852,644 (GRCm39)	missense	possibly damaging	0.57
IGL01747:Abca14	APN	7	119,877,310 (GRCm39)	missense	probably benign	0.00
IGL02214:Abca14	APN	7	119,893,398 (GRCm39)	missense	probably benign	0.09
IGL02215:Abca14	APN	7	119,852,612 (GRCm39)	missense	probably benign	0.00
IGL02253:Abca14	APN	7	119,807,182 (GRCm39)	missense	probably benign	0.29
IGL02302:Abca14	APN	7	119,917,968 (GRCm39)	splice site	probably benign
IGL03391:Abca14	APN	7	119,846,107 (GRCm39)	missense	probably damaging	1.00
F6893:Abca14	UTSW	7	119,924,261 (GRCm39)	missense	probably damaging	0.98
R0109:Abca14	UTSW	7	119,917,985 (GRCm39)	nonsense	probably null
R0109:Abca14	UTSW	7	119,917,985 (GRCm39)	nonsense	probably null
R0265:Abca14	UTSW	7	119,822,850 (GRCm39)	missense	probably benign	0.03
R0326:Abca14	UTSW	7	119,823,642 (GRCm39)	missense	probably damaging	1.00
R0380:Abca14	UTSW	7	119,877,703 (GRCm39)	missense	probably benign	0.03
R0418:Abca14	UTSW	7	119,806,657 (GRCm39)	missense	probably damaging	1.00
R0539:Abca14	UTSW	7	119,807,020 (GRCm39)	missense	probably damaging	1.00
R0574:Abca14	UTSW	7	119,823,720 (GRCm39)	missense	probably damaging	0.96
R0611:Abca14	UTSW	7	119,851,479 (GRCm39)	missense	possibly damaging	0.63
R0783:Abca14	UTSW	7	119,893,380 (GRCm39)	missense	probably damaging	1.00
R0785:Abca14	UTSW	7	119,893,380 (GRCm39)	missense	probably damaging	1.00
R0863:Abca14	UTSW	7	119,815,453 (GRCm39)	missense	probably benign	0.03
R1034:Abca14	UTSW	7	119,815,370 (GRCm39)	missense	probably damaging	1.00
R1056:Abca14	UTSW	7	119,924,295 (GRCm39)	missense	probably damaging	1.00
R1072:Abca14	UTSW	7	119,811,992 (GRCm39)	missense	probably benign
R1244:Abca14	UTSW	7	119,815,561 (GRCm39)	missense	probably benign	0.06
R1255:Abca14	UTSW	7	119,807,016 (GRCm39)	missense	probably damaging	0.97
R1271:Abca14	UTSW	7	119,924,340 (GRCm39)	missense	probably damaging	1.00
R1325:Abca14	UTSW	7	119,846,545 (GRCm39)	missense	probably benign	0.32
R1457:Abca14	UTSW	7	119,888,683 (GRCm39)	missense	probably benign	0.00
R1467:Abca14	UTSW	7	119,815,405 (GRCm39)	missense	possibly damaging	0.80
R1467:Abca14	UTSW	7	119,815,405 (GRCm39)	missense	possibly damaging	0.80
R1494:Abca14	UTSW	7	119,815,524 (GRCm39)	missense	probably benign	0.00
R1551:Abca14	UTSW	7	119,918,101 (GRCm39)	missense	probably benign	0.10
R1607:Abca14	UTSW	7	119,850,514 (GRCm39)	missense	probably damaging	1.00
R1739:Abca14	UTSW	7	119,877,529 (GRCm39)	missense	probably benign	0.04
R1856:Abca14	UTSW	7	119,877,404 (GRCm39)	missense	probably damaging	1.00
R1875:Abca14	UTSW	7	119,847,190 (GRCm39)	missense	possibly damaging	0.78
R1892:Abca14	UTSW	7	119,815,561 (GRCm39)	missense	probably benign	0.06
R1898:Abca14	UTSW	7	119,850,392 (GRCm39)	missense	probably damaging	1.00
R1958:Abca14	UTSW	7	119,924,382 (GRCm39)	missense	probably damaging	0.98
R2018:Abca14	UTSW	7	119,815,408 (GRCm39)	missense	probably benign	0.00
R2039:Abca14	UTSW	7	119,911,487 (GRCm39)	missense	probably damaging	0.98
R2060:Abca14	UTSW	7	119,826,741 (GRCm39)	nonsense	probably null
R2202:Abca14	UTSW	7	119,888,764 (GRCm39)	missense	probably benign	0.17
R2205:Abca14	UTSW	7	119,846,503 (GRCm39)	missense	probably damaging	0.98
R2360:Abca14	UTSW	7	119,850,431 (GRCm39)	missense	probably benign	0.00
R2401:Abca14	UTSW	7	119,882,312 (GRCm39)	missense	probably damaging	1.00
R2426:Abca14	UTSW	7	119,882,446 (GRCm39)	missense	probably benign	0.04
R3433:Abca14	UTSW	7	119,893,455 (GRCm39)	missense	probably damaging	0.97
R4598:Abca14	UTSW	7	119,854,626 (GRCm39)	missense	probably benign	0.11
R4599:Abca14	UTSW	7	119,854,626 (GRCm39)	missense	probably benign	0.11
R4700:Abca14	UTSW	7	119,911,928 (GRCm39)	critical splice donor site	probably null
R4751:Abca14	UTSW	7	119,911,400 (GRCm39)	missense	probably benign	0.01
R4826:Abca14	UTSW	7	119,815,470 (GRCm39)	missense	probably damaging	1.00
R4828:Abca14	UTSW	7	119,815,470 (GRCm39)	missense	probably damaging	1.00
R4837:Abca14	UTSW	7	119,846,203 (GRCm39)	missense	probably benign
R4881:Abca14	UTSW	7	119,877,472 (GRCm39)	missense	possibly damaging	0.49
R4895:Abca14	UTSW	7	119,846,572 (GRCm39)	critical splice donor site	probably null
R4928:Abca14	UTSW	7	119,923,803 (GRCm39)	missense	possibly damaging	0.90
R4990:Abca14	UTSW	7	119,911,388 (GRCm39)	missense	probably benign	0.00
R5027:Abca14	UTSW	7	119,911,505 (GRCm39)	missense	probably benign	0.05
R5091:Abca14	UTSW	7	119,851,497 (GRCm39)	missense	probably damaging	1.00
R5158:Abca14	UTSW	7	119,852,652 (GRCm39)	missense	probably benign
R5209:Abca14	UTSW	7	119,832,130 (GRCm39)	missense	probably benign	0.01
R5333:Abca14	UTSW	7	119,888,769 (GRCm39)	nonsense	probably null
R5488:Abca14	UTSW	7	119,851,473 (GRCm39)	missense	probably damaging	0.98
R5489:Abca14	UTSW	7	119,851,473 (GRCm39)	missense	probably damaging	0.98
R5716:Abca14	UTSW	7	119,846,217 (GRCm39)	critical splice donor site	probably null
R6450:Abca14	UTSW	7	119,815,449 (GRCm39)	missense	probably benign	0.17
R6477:Abca14	UTSW	7	119,924,325 (GRCm39)	missense	probably benign	0.44
R6652:Abca14	UTSW	7	119,846,164 (GRCm39)	missense	probably damaging	1.00
R6782:Abca14	UTSW	7	119,847,308 (GRCm39)	missense	probably damaging	1.00
R6874:Abca14	UTSW	7	119,851,428 (GRCm39)	missense	possibly damaging	0.71
R6965:Abca14	UTSW	7	119,882,452 (GRCm39)	nonsense	probably null
R7142:Abca14	UTSW	7	119,850,406 (GRCm39)	missense	possibly damaging	0.89
R7146:Abca14	UTSW	7	119,854,520 (GRCm39)	missense	probably benign	0.15
R7202:Abca14	UTSW	7	119,917,236 (GRCm39)	missense	probably damaging	1.00
R7220:Abca14	UTSW	7	119,826,667 (GRCm39)	missense	possibly damaging	0.45
R7241:Abca14	UTSW	7	119,846,184 (GRCm39)	missense	probably damaging	1.00
R7291:Abca14	UTSW	7	119,888,832 (GRCm39)	nonsense	probably null
R7296:Abca14	UTSW	7	119,877,534 (GRCm39)	missense	probably benign
R7298:Abca14	UTSW	7	119,807,106 (GRCm39)	missense	probably benign	0.00
R7315:Abca14	UTSW	7	119,893,341 (GRCm39)	missense	probably benign	0.00
R7776:Abca14	UTSW	7	119,832,214 (GRCm39)	critical splice donor site	probably null
R7820:Abca14	UTSW	7	119,811,944 (GRCm39)	missense	probably benign	0.42
R7873:Abca14	UTSW	7	119,888,792 (GRCm39)	missense	probably benign	0.17
R8215:Abca14	UTSW	7	119,893,425 (GRCm39)	missense	probably benign
R8332:Abca14	UTSW	7	119,815,436 (GRCm39)	missense	probably benign
R8419:Abca14	UTSW	7	119,815,489 (GRCm39)	missense	probably benign	0.08
R8444:Abca14	UTSW	7	119,918,133 (GRCm39)	missense	probably damaging	1.00
R8818:Abca14	UTSW	7	119,815,524 (GRCm39)	missense	probably benign	0.00
R8834:Abca14	UTSW	7	119,877,372 (GRCm39)	missense	probably benign	0.02
R8845:Abca14	UTSW	7	119,846,428 (GRCm39)	missense	probably benign	0.00
R8889:Abca14	UTSW	7	119,815,606 (GRCm39)	missense	probably damaging	1.00
R8892:Abca14	UTSW	7	119,815,606 (GRCm39)	missense	probably damaging	1.00
R8894:Abca14	UTSW	7	119,847,368 (GRCm39)	missense	probably damaging	1.00
R8903:Abca14	UTSW	7	119,815,526 (GRCm39)	missense	probably damaging	0.98
R8950:Abca14	UTSW	7	119,823,595 (GRCm39)	missense	possibly damaging	0.92
R8950:Abca14	UTSW	7	119,823,644 (GRCm39)	nonsense	probably null
R9018:Abca14	UTSW	7	119,918,532 (GRCm39)	missense	probably damaging	0.98
R9018:Abca14	UTSW	7	119,888,763 (GRCm39)	missense	probably benign	0.01
R9110:Abca14	UTSW	7	119,831,615 (GRCm39)	intron	probably benign
R9254:Abca14	UTSW	7	119,807,202 (GRCm39)	nonsense	probably null
R9376:Abca14	UTSW	7	119,893,438 (GRCm39)	missense	probably damaging	1.00
R9378:Abca14	UTSW	7	119,807,191 (GRCm39)	missense	possibly damaging	0.64
R9379:Abca14	UTSW	7	119,807,202 (GRCm39)	nonsense	probably null
R9388:Abca14	UTSW	7	119,882,261 (GRCm39)	missense	probably benign	0.01
R9445:Abca14	UTSW	7	119,877,691 (GRCm39)	missense	probably benign	0.05
R9522:Abca14	UTSW	7	119,847,368 (GRCm39)	missense	probably null	0.98
R9577:Abca14	UTSW	7	119,810,768 (GRCm39)	missense	probably benign	0.27
R9627:Abca14	UTSW	7	119,854,530 (GRCm39)	missense	probably benign	0.00
R9639:Abca14	UTSW	7	119,893,345 (GRCm39)	missense	probably benign	0.01
R9660:Abca14	UTSW	7	119,851,478 (GRCm39)	missense	probably benign	0.00
R9696:Abca14	UTSW	7	119,888,734 (GRCm39)	missense	possibly damaging	0.59
R9709:Abca14	UTSW	7	119,888,739 (GRCm39)	nonsense	probably null
R9780:Abca14	UTSW	7	119,911,447 (GRCm39)	missense	probably benign	0.00
Z1088:Abca14	UTSW	7	119,815,358 (GRCm39)	missense	probably benign	0.14
Z1176:Abca14	UTSW	7	119,846,146 (GRCm39)	missense	probably damaging	1.00
Z1177:Abca14	UTSW	7	119,917,210 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTAGAGGATCTGAGTGTCCCTG -3'
(R):5'- AGGTTTGATGCCCTCTTCTG -3'

Sequencing Primer
(F):5'- TCCCTGGTTAGGTGGCACTC -3'
(R):5'- AGGTTTGATGCCCTCTTCTGATCTC -3'

Posted On

2016-09-01