Mutagenetix > Incidental Mutation

Incidental Mutation 'R9254:Abca14'

701727

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9254 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 119807202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 83 (E83*)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably null
Transcript: ENSMUST00000084640
AA Change: E83*

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: E83*

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,914,049 (GRCm39)	I173V	possibly damaging	Het
Abcc5	T	C	16: 20,152,437 (GRCm39)	T1370A	probably damaging	Het
Abtb2	A	G	2: 103,541,580 (GRCm39)	T828A	probably benign	Het
Agap1	T	A	1: 89,653,741 (GRCm39)	V370D	probably damaging	Het
Ankhd1	T	C	18: 36,777,680 (GRCm39)	V1621A	probably benign	Het
Atp2a2	T	C	5: 122,611,315 (GRCm39)	I168V	probably benign	Het
Atxn2	G	A	5: 121,885,509 (GRCm39)	V239I	probably damaging	Het
B230219D22Rik	C	A	13: 55,847,283 (GRCm39)	A132E	probably damaging	Het
Bod1l	T	C	5: 41,979,223 (GRCm39)	E697G	probably damaging	Het
Ccdc162	T	G	10: 41,488,944 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,752,210 (GRCm39)	S236G	unknown	Het
Csmd2	A	G	4: 128,091,112 (GRCm39)	E217G		Het
Cyp2j7	T	A	4: 96,105,740 (GRCm39)	K257*	probably null	Het
D630003M21Rik	C	T	2: 158,042,883 (GRCm39)	A886T	probably damaging	Het
D630044L22Rik	A	G	17: 26,180,856 (GRCm39)	H102R	possibly damaging	Het
Dact3	G	A	7: 16,620,013 (GRCm39)	V503I	unknown	Het
Dcn	G	T	10: 97,343,643 (GRCm39)	R201L	probably damaging	Het
Dmxl1	T	C	18: 50,024,567 (GRCm39)	V1747A	possibly damaging	Het
Dnajc14	T	A	10: 128,652,743 (GRCm39)		probably null	Het
Dner	A	G	1: 84,673,193 (GRCm39)	V86A	probably benign	Het
Dspp	A	T	5: 104,322,760 (GRCm39)		probably null	Het
Gphn	T	C	12: 78,674,036 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,373,042 (GRCm39)		probably benign	Het
Grip1	G	T	10: 119,780,961 (GRCm39)	L203F	probably damaging	Het
Hgfac	T	C	5: 35,202,133 (GRCm39)	W345R	probably damaging	Het
Hoga1	T	C	19: 42,051,697 (GRCm39)	L250P	probably damaging	Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Katnip	T	C	7: 125,469,848 (GRCm39)	L1439P	probably damaging	Het
Kif21a	C	T	15: 90,854,030 (GRCm39)	R779Q	probably damaging	Het
Klkb1	T	C	8: 45,742,067 (GRCm39)	T71A	probably benign	Het
Lama2	A	G	10: 27,298,685 (GRCm39)	V137A	probably damaging	Het
Lrp2	T	C	2: 69,333,891 (GRCm39)	D1450G	probably benign	Het
Lrrc8c	T	A	5: 105,756,356 (GRCm39)	Y710*	probably null	Het
Mixl1	A	G	1: 180,522,258 (GRCm39)	S208P	probably benign	Het
Mroh1	A	G	15: 76,292,215 (GRCm39)	H229R	probably benign	Het
Muc16	T	A	9: 18,557,467 (GRCm39)	Q2942L	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup85	T	C	11: 115,469,424 (GRCm39)	I322T	probably benign	Het
Odad1	A	G	7: 45,597,116 (GRCm39)	T456A	probably benign	Het
Odad2	T	C	18: 7,265,089 (GRCm39)	D426G	possibly damaging	Het
Or10n7-ps1	A	G	9: 39,598,114 (GRCm39)	L42P	probably damaging	Het
Or5w15	T	A	2: 87,568,372 (GRCm39)	M99L	probably benign	Het
Or7e169	T	A	9: 19,757,212 (GRCm39)	K234N	possibly damaging	Het
Or8b4	C	T	9: 37,830,447 (GRCm39)	L165F	probably damaging	Het
Or9k2b	A	G	10: 130,016,605 (GRCm39)	M48T	possibly damaging	Het
Pcyt1a	G	A	16: 32,288,894 (GRCm39)	R245Q	probably benign	Het
Pi15	T	C	1: 17,695,180 (GRCm39)	Y266H	probably benign	Het
Plxna2	C	T	1: 194,492,474 (GRCm39)	T1777I	probably damaging	Het
Ppp3cb	T	C	14: 20,581,874 (GRCm39)	D47G	probably benign	Het
Pram1	T	C	17: 33,860,441 (GRCm39)	V336A	probably damaging	Het
Prl	T	A	13: 27,243,503 (GRCm39)	I58N	probably damaging	Het
Qrich2	T	C	11: 116,348,934 (GRCm39)	D630G	unknown	Het
Ralgapa1	G	C	12: 55,769,583 (GRCm39)	P803A	probably damaging	Het
Rin1	A	G	19: 5,103,249 (GRCm39)	K513E	probably damaging	Het
Rtcb	A	T	10: 85,779,071 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,898,002 (GRCm39)	C131Y	probably damaging	Het
Sspo	G	T	6: 48,464,928 (GRCm39)	V3954L	probably damaging	Het
Taf4b	C	T	18: 14,946,431 (GRCm39)	T418M	probably damaging	Het
Taf6	A	G	5: 138,181,952 (GRCm39)	I92T	possibly damaging	Het
Tfg	A	T	16: 56,526,050 (GRCm39)	D64E	probably damaging	Het
Tkfc	T	A	19: 10,574,712 (GRCm39)	E176V	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem200a	A	T	10: 25,869,654 (GRCm39)	L205Q	probably damaging	Het
Trav13n-3	T	G	14: 53,574,853 (GRCm39)	L32V	probably damaging	Het
Tsen2	T	A	6: 115,553,864 (GRCm39)	M414K	probably damaging	Het
Tut7	T	C	13: 59,936,288 (GRCm39)	Y1271C	possibly damaging	Het
Txlna	A	T	4: 129,530,900 (GRCm39)	Y196N	probably damaging	Het
Usp44	T	A	10: 93,688,635 (GRCm39)	I562K	possibly damaging	Het
Vmn1r24	T	A	6: 57,932,736 (GRCm39)	I261F	probably benign	Het
Vmn2r106	T	C	17: 20,496,066 (GRCm39)	T553A	probably damaging	Het
Vmn2r65	A	G	7: 84,596,650 (GRCm39)	V135A	probably 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
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
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
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'- TGTGTTCACTAACGTGCCCC -3'
(R):5'- GCAGACATTTGAGCAAAATCCATTG -3'

Sequencing Primer
(F):5'- TTGCAGAGCCGGAATGTG -3'
(R):5'- GCAAAATCCATTGTGTTCTATTTGGG -3'

Posted On

2022-03-25