Mutagenetix > Incidental Mutation

Incidental Mutation 'R9780:Abca14'

733978

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 #

R9780 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119911447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1344 (T1344A)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: T1344A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: T1344A

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,876 (GRCm39)	I73F	probably damaging	Het
Ankrd24	T	C	10: 81,482,196 (GRCm39)	S915P	possibly damaging	Het
Ano1	A	T	7: 144,209,358 (GRCm39)	F281I	probably damaging	Het
Arhgap42	A	G	9: 9,059,102 (GRCm39)	V148A	probably benign	Het
Arnt2	A	G	7: 83,954,426 (GRCm39)	I256T	probably benign	Het
Bloc1s3	G	A	7: 19,241,408 (GRCm39)	S40L	possibly damaging	Het
Cep68	G	A	11: 20,192,142 (GRCm39)	P19L	probably benign	Het
Chst9	T	A	18: 15,586,221 (GRCm39)	Q114L	probably benign	Het
Cpa2	T	A	6: 30,545,536 (GRCm39)	F106I	probably benign	Het
Cplane1	A	G	15: 8,258,123 (GRCm39)	E2123G	probably benign	Het
Crocc	T	C	4: 140,756,556 (GRCm39)	D1187G	probably benign	Het
Dhx8	A	T	11: 101,632,403 (GRCm39)	D454V	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif3a	A	T	19: 60,766,398 (GRCm39)	L310H	probably damaging	Het
Ergic3	C	A	2: 155,853,164 (GRCm39)	Y202*	probably null	Het
Fam117a	A	T	11: 95,268,309 (GRCm39)	I237L	possibly damaging	Het
Fcsk	T	C	8: 111,613,743 (GRCm39)	M773V	probably benign	Het
Gcnt4	T	A	13: 97,083,948 (GRCm39)	S415T	probably benign	Het
Hacl1	C	A	14: 31,362,519 (GRCm39)	V43L	possibly damaging	Het
Hbb-bh2	A	G	7: 103,489,624 (GRCm39)	L4P	probably damaging	Het
Hmbs	A	G	9: 44,247,985 (GRCm39)	L357P	probably damaging	Het
Hpcal1	A	G	12: 17,836,494 (GRCm39)	Y108C	probably damaging	Het
Hspa14	A	T	2: 3,490,741 (GRCm39)	M482K	probably damaging	Het
Ifi27l2b	G	T	12: 103,417,461 (GRCm39)	P242Q	unknown	Het
Insyn1	A	G	9: 58,406,881 (GRCm39)	N264D	probably damaging	Het
Itpr1	T	C	6: 108,487,795 (GRCm39)	V2407A	probably benign	Het
Lcp1	T	C	14: 75,440,178 (GRCm39)	F154S	probably damaging	Het
Lmod2	T	C	6: 24,604,233 (GRCm39)	S403P	probably damaging	Het
Lrrc63	G	A	14: 75,360,500 (GRCm39)	A334V	probably damaging	Het
Lrriq1	T	A	10: 103,025,824 (GRCm39)	T933S	probably damaging	Het
Mga	A	G	2: 119,747,253 (GRCm39)	Y468C	probably benign	Het
Msh4	T	C	3: 153,582,342 (GRCm39)	Y510C	probably damaging	Het
Myh11	T	C	16: 14,064,613 (GRCm39)	K235R		Het
Nek2	A	T	1: 191,554,738 (GRCm39)	D150V	probably damaging	Het
Nfkbil1	C	A	17: 35,439,898 (GRCm39)	R205L	possibly damaging	Het
Nox3	A	G	17: 3,736,260 (GRCm39)	F122S	possibly damaging	Het
Nrxn1	A	G	17: 90,931,042 (GRCm39)	V718A	possibly damaging	Het
Oplah	A	G	15: 76,181,940 (GRCm39)	I1061T	probably damaging	Het
Or13e8	G	A	4: 43,697,193 (GRCm39)		probably benign	Het
Or2y16	G	A	11: 49,335,014 (GRCm39)	C112Y	possibly damaging	Het
Or51b17	A	G	7: 103,542,631 (GRCm39)	S104P	probably damaging	Het
Or9m1	A	G	2: 87,733,426 (GRCm39)	L198P	probably damaging	Het
Pcf11	A	T	7: 92,313,313 (GRCm39)	D123E	possibly damaging	Het
Pcna	C	T	2: 132,094,794 (GRCm39)	E55K	probably benign	Het
Pip5k1c	T	C	10: 81,141,030 (GRCm39)	V46A	probably benign	Het
Plce1	T	G	19: 38,609,134 (GRCm39)	L481R	possibly damaging	Het
Psma7	A	T	2: 179,678,339 (GRCm39)	Y228N	unknown	Het
Rcbtb1	T	A	14: 59,465,796 (GRCm39)	Y380N	probably benign	Het
Rin2	A	T	2: 145,718,551 (GRCm39)	E677V	probably damaging	Het
Scgb2b11	A	G	7: 31,909,861 (GRCm39)	L75P	probably damaging	Het
Scn4a	A	G	11: 106,226,235 (GRCm39)	V775A	probably damaging	Het
Setx	A	G	2: 29,016,999 (GRCm39)	D34G	possibly damaging	Het
Slc38a9	A	T	13: 112,862,591 (GRCm39)	D430V	probably damaging	Het
Snapc4	A	T	2: 26,267,019 (GRCm39)	N77K	possibly damaging	Het
Stk32a	T	G	18: 43,375,049 (GRCm39)	F20V	probably benign	Het
Taf1b	G	A	12: 24,564,818 (GRCm39)	G145D	probably damaging	Het
Tomt	G	C	7: 101,549,536 (GRCm39)	Q251E	probably benign	Het
Tsc1	G	A	2: 28,565,761 (GRCm39)	E471K	probably damaging	Het
Ttll9	G	A	2: 152,836,023 (GRCm39)	A256T	possibly damaging	Het
Ttn	A	T	2: 76,774,289 (GRCm39)	C2252S	probably benign	Het
Ttn	A	T	2: 76,785,035 (GRCm39)	D797E	unknown	Het
Usf3	T	A	16: 44,039,181 (GRCm39)	N1220K	possibly damaging	Het
Usp22	A	T	11: 61,050,069 (GRCm39)	H355Q	probably benign	Het
Virma	T	A	4: 11,513,442 (GRCm39)	V432E	possibly damaging	Het
Vtn	A	C	11: 78,393,003 (GRCm39)	D456A	probably damaging	Het
Zbbx	A	G	3: 74,945,359 (GRCm39)	S688P	probably damaging	Het
Zfhx2	C	A	14: 55,312,494 (GRCm39)	D67Y	probably benign	Het
Zfp87	T	C	13: 67,665,241 (GRCm39)	H407R	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
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
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'- TTGTGTGCAGAAAGTCTCTTGAC -3'
(R):5'- GACAGAAATGCTTCAGACAGGTTC -3'

Sequencing Primer
(F):5'- ACTTCTGTTTTGACACTCTGGAAG -3'
(R):5'- TGCTTCAGACAGGTTCACAAG -3'

Posted On

2022-11-14