Mutagenetix > Incidental Mutation

Incidental Mutation 'R0380:Abca14'

30931

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

038586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119877703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1073 (I1073L)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: I1073L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: I1073L

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: ENSMUST00000207961

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

100% (58/58)

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
Abca13	A	T	11: 9,538,500 (GRCm39)		probably null	Het
Adamts17	C	T	7: 66,799,792 (GRCm39)	P1116L	probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Ano4	A	G	10: 88,814,675 (GRCm39)	I671T	possibly damaging	Het
Aoc1l1	A	G	6: 48,952,773 (GRCm39)	I233V	probably benign	Het
Ap1g1	A	G	8: 110,529,796 (GRCm39)		probably benign	Het
Arhgap19	A	G	19: 41,761,576 (GRCm39)		probably benign	Het
Arhgap32	C	T	9: 32,157,773 (GRCm39)	R129W	probably damaging	Het
Atp10b	G	T	11: 43,116,424 (GRCm39)	A924S	probably damaging	Het
Ccdc180	T	A	4: 45,930,197 (GRCm39)		probably null	Het
Cckbr	A	G	7: 105,084,198 (GRCm39)	T311A	probably benign	Het
Cr2	C	T	1: 194,839,715 (GRCm39)	G947R	probably damaging	Het
Cyp2g1	T	A	7: 26,513,720 (GRCm39)		probably benign	Het
Dennd1c	G	A	17: 57,380,822 (GRCm39)	A210V	probably damaging	Het
Dscam	A	G	16: 96,857,810 (GRCm39)	Y67H	probably damaging	Het
Dsg2	T	A	18: 20,715,996 (GRCm39)	Y282*	probably null	Het
Epg5	T	C	18: 78,004,056 (GRCm39)	L688P	probably damaging	Het
Esr2	T	G	12: 76,170,065 (GRCm39)	E458A	possibly damaging	Het
Fat1	T	C	8: 45,463,160 (GRCm39)	S1326P	probably damaging	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gpr12	T	A	5: 146,520,146 (GRCm39)	T259S	probably damaging	Het
Grm5	T	A	7: 87,723,584 (GRCm39)	C625S	possibly damaging	Het
H2-Q1	C	T	17: 35,542,054 (GRCm39)	H209Y	probably damaging	Het
Hcfc2	C	A	10: 82,564,272 (GRCm39)		probably benign	Het
Itgal	C	A	7: 126,909,923 (GRCm39)	Y495*	probably null	Het
Kbtbd3	T	A	9: 4,330,545 (GRCm39)	Y306*	probably null	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Kif1a	T	A	1: 92,983,753 (GRCm39)		probably null	Het
Maml2	C	T	9: 13,532,396 (GRCm39)	R537*	probably null	Het
Muc4	G	A	16: 32,574,333 (GRCm39)	A928T	probably benign	Het
Nav3	A	G	10: 109,594,740 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,122,214 (GRCm39)	M605K	probably damaging	Het
Or2c1	A	T	16: 3,656,849 (GRCm39)	D4V	probably benign	Het
Pcdhb3	T	G	18: 37,435,210 (GRCm39)	I392S	possibly damaging	Het
Prune2	A	G	19: 17,101,371 (GRCm39)	T2292A	probably damaging	Het
Rbbp8nl	A	T	2: 179,923,512 (GRCm39)	M108K	probably damaging	Het
Rbm25	A	G	12: 83,707,130 (GRCm39)	T259A	probably benign	Het
Recql	C	A	6: 142,315,156 (GRCm39)	R243L	probably damaging	Het
Rsf1	TGGCG	TGGCGACGGCGGCG	7: 97,229,112 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,878,551 (GRCm39)		probably null	Het
Slc16a14	T	A	1: 84,907,251 (GRCm39)	I8F	possibly damaging	Het
Spef1	G	T	2: 131,014,332 (GRCm39)		probably benign	Het
Tas2r103	A	G	6: 133,013,166 (GRCm39)	L300P	probably damaging	Het
Tas2r117	A	T	6: 132,780,551 (GRCm39)	R230*	probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thnsl2	A	T	6: 71,118,314 (GRCm39)	L38Q	probably damaging	Het
Tmem171	G	T	13: 98,828,535 (GRCm39)	T205K	possibly damaging	Het
Tmem232	A	T	17: 65,563,443 (GRCm39)	L650Q	probably benign	Het
Tpr	T	A	1: 150,288,698 (GRCm39)	D518E	probably benign	Het
Tsen54	T	C	11: 115,713,423 (GRCm39)	V442A	probably damaging	Het
Tshz3	A	T	7: 36,470,725 (GRCm39)	I905F	probably damaging	Het
Vmn1r66	C	T	7: 10,008,670 (GRCm39)	C121Y	probably benign	Het
Wdfy3	T	C	5: 102,096,832 (GRCm39)	Q322R	probably damaging	Het
Wdr64	T	C	1: 175,597,208 (GRCm39)		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
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
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'- AATGAGGCATACCATGCAGCACCG -3'
(R):5'- TGGATGATGAGGTCCCACAGCAAAG -3'

Sequencing Primer
(F):5'- ATAAGTATCTCTCTGGCCCTGATG -3'
(R):5'- TCCCACAGCAAAGCGGAG -3'

Nature of Mutation

Multiple transcripts of the Abca14 gene are displayed on Ensembl.

Protein Function and Prediction

The Abca14 gene encodes a 1683 amino acid protein that belongs to the ATP-binding cassette (ABC) transporter superfamily. These transporters use the hydrolysis of ATP to export or import a wide variety of substrates ranging from small ions to macromolecules. The members of the ABCA subfamily share a high degree of sequence conservation and function in lipid trafficking in several body locations. Abca14 has been cloned rat and mouse; no human orthologue has been described. The ABCA14 has two nucleotide-binding folds and two transmembrane domains. Abca14 is predominantly expressed in testis, indicating that it may function in testicular development or spermatogenesis.

Posted On

2013-04-24