Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Abca14'

720343

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

068919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9110 (G1)

Quality Score

58.0073

Status

Validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 119831615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,907 (GRCm39)	D339G	probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or5w19	T	A	2: 87,698,543 (GRCm39)	D69E	probably damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Sfxn3	T	A	19: 45,038,727 (GRCm39)	N131K	probably damaging	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Slc20a2	T	C	8: 23,025,457 (GRCm39)	I53T	probably damaging	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Tmem87b	C	T	2: 128,684,615 (GRCm39)	Q459*	probably null	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	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
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
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'- TAGACTAATGACCAGCAACCCTT -3'
(R):5'- AAGTCAGTGAATCCATAGCGG -3'

Sequencing Primer
(F):5'- AGCCTTTCACCATTGGAGG -3'
(R):5'- TTGTGGCTATTCTGGCAC -3'

Posted On

2022-07-20