Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Abca14'

566412

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

045322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 119888832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1259 (C1259*)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably null
Transcript: ENSMUST00000084640
AA Change: C1259*

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: C1259*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,699 (GRCm39)	E51G	possibly damaging	Het
Ablim1	T	C	19: 57,204,340 (GRCm39)	E17G	probably benign	Het
Acsf3	G	A	8: 123,540,316 (GRCm39)	V505I	probably benign	Het
Actn1	T	C	12: 80,220,859 (GRCm39)	M650V	probably benign	Het
Adamts4	G	A	1: 171,084,097 (GRCm39)	V525I	probably benign	Het
Adh1	T	C	3: 137,988,569 (GRCm39)	Y181H	probably damaging	Het
Alpl	G	A	4: 137,480,009 (GRCm39)	R168W	probably damaging	Het
Ate1	T	G	7: 130,121,661 (GRCm39)	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,668,288 (GRCm39)	F314L	probably damaging	Het
Baiap3	T	A	17: 25,463,291 (GRCm39)	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C1s2	T	A	6: 124,602,343 (GRCm39)	I623F	probably benign	Het
Card11	T	C	5: 140,886,825 (GRCm39)	D308G	probably damaging	Het
Cul9	C	T	17: 46,851,359 (GRCm39)	V354I	probably benign	Het
Dnah1	A	T	14: 31,020,662 (GRCm39)	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590 (GRCm39)	I4266F	possibly damaging	Het
Ear10	A	T	14: 44,160,377 (GRCm39)	V150D	probably damaging	Het
Elfn2	C	T	15: 78,557,183 (GRCm39)	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792 (GRCm39)	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895 (GRCm39)	H104Q	probably benign	Het
Fcgbp	A	G	7: 27,800,817 (GRCm39)	N1288D	probably benign	Het
Fcgbpl1	A	C	7: 27,839,645 (GRCm39)	D486A	probably benign	Het
Fcrl1	T	C	3: 87,293,088 (GRCm39)		probably null	Het
Fmo2	G	T	1: 162,715,271 (GRCm39)	P117Q	probably benign	Het
Fsip2	A	G	2: 82,810,863 (GRCm39)	K2394R	possibly damaging	Het
Gab1	T	G	8: 81,526,780 (GRCm39)	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,258,721 (GRCm39)	V248A	probably damaging	Het
Gemin6	T	C	17: 80,535,204 (GRCm39)	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Gm3250	T	C	10: 77,618,061 (GRCm39)	T106A	unknown	Het
Gm7356	T	C	17: 14,221,843 (GRCm39)	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,774,689 (GRCm39)	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,636,621 (GRCm39)	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,972,122 (GRCm39)	L716S	probably damaging	Het
Hecw2	A	G	1: 53,953,753 (GRCm39)	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,802,381 (GRCm39)	S151N	probably benign	Het
Il15ra	C	T	2: 11,723,192 (GRCm39)	T72I	probably damaging	Het
Ints1	A	G	5: 139,750,829 (GRCm39)	L858P	probably damaging	Het
Kat2a	C	T	11: 100,601,726 (GRCm39)	V230I	possibly damaging	Het
Kcnq2	A	T	2: 180,730,172 (GRCm39)	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,506,611 (GRCm39)	T229I	possibly damaging	Het
Ly75	T	A	2: 60,160,337 (GRCm39)	I957F	probably damaging	Het
Map3k12	T	A	15: 102,410,601 (GRCm39)	R459W	probably damaging	Het
Mia2	T	A	12: 59,205,155 (GRCm39)		probably null	Het
Mrgprf	A	G	7: 144,861,206 (GRCm39)	I53V	unknown	Het
Mttp	A	G	3: 137,796,964 (GRCm39)	L846P	probably damaging	Het
Myrip	C	T	9: 120,246,207 (GRCm39)	L112F	probably damaging	Het
Nav1	A	G	1: 135,393,597 (GRCm39)	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,458,628 (GRCm39)	D327G	possibly damaging	Het
Notch1	C	T	2: 26,366,387 (GRCm39)	V776I	probably benign	Het
Obsl1	G	T	1: 75,466,161 (GRCm39)	D1522E	probably damaging	Het
Or52s6	T	A	7: 103,091,995 (GRCm39)	M112L	probably benign	Het
Or5b110-ps1	A	T	19: 13,259,517 (GRCm39)	F302I	unknown	Het
Or7e168	T	C	9: 19,719,944 (GRCm39)	M110T	possibly damaging	Het
Or9r3	T	C	10: 129,948,093 (GRCm39)	K189E	probably benign	Het
Pde7a	T	C	3: 19,281,838 (GRCm39)	N471D	probably benign	Het
Pla2r1	T	C	2: 60,360,779 (GRCm39)	H203R	probably benign	Het
Plch2	C	A	4: 155,082,929 (GRCm39)	C573F	probably damaging	Het
Polr1a	G	A	6: 71,918,440 (GRCm39)	R666Q	probably benign	Het
Prepl	T	C	17: 85,388,668 (GRCm39)	N145S	probably benign	Het
Psen2	C	T	1: 180,066,521 (GRCm39)	V139M	probably benign	Het
Ptgdr	A	T	14: 45,096,649 (GRCm39)	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,582,065 (GRCm39)	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,269,747 (GRCm39)	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,811,382 (GRCm39)	M824K	probably benign	Het
Sel1l	T	C	12: 91,815,739 (GRCm39)	T23A	probably benign	Het
Sele	A	G	1: 163,881,437 (GRCm39)	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,381,822 (GRCm39)	N421D	probably damaging	Het
Slc35f3	T	G	8: 127,121,297 (GRCm39)	L386R	probably benign	Het
Stab2	G	A	10: 86,782,084 (GRCm39)	S699L	probably damaging	Het
Synrg	A	T	11: 83,900,207 (GRCm39)	L726F	probably damaging	Het
Syt3	G	A	7: 44,045,343 (GRCm39)	V528M	probably damaging	Het
Szt2	A	G	4: 118,248,446 (GRCm39)	I655T	probably damaging	Het
Tbr1	T	C	2: 61,642,600 (GRCm39)	S622P	probably damaging	Het
Tex36	C	T	7: 133,188,952 (GRCm39)	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,550,399 (GRCm39)	W13*	probably null	Het
Trdn	A	T	10: 33,313,732 (GRCm39)	E500V	probably null	Het
Ugt2b38	A	T	5: 87,559,754 (GRCm39)	N379K	probably damaging	Het
Unc13d	T	C	11: 115,964,876 (GRCm39)	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,462,919 (GRCm39)	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,794,471 (GRCm39)	I733V	probably benign	Het
Zfp870	T	A	17: 33,102,828 (GRCm39)	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,426,503 (GRCm39)	M179L	probably benign	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
R5424:Abca14	UTSW	7	119,810,777 (GRCm39)	missense	probably benign	0.01
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
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'- GTCAACATGAGGTCTTTTCCACAG -3'
(R):5'- CAAGTTTAAATCTCAGCTAAGCCTG -3'

Sequencing Primer
(F):5'- CATGCTGCTGTTACCCAT -3'
(R):5'- CAGCTAAGCCTGTGTTTTGTAAC -3'

Posted On

2019-06-26