Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Abca14'

722358

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 #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119803184-119924575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119810768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 116 (Y116H)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: Y116H

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: Y116H

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: 99.0%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,608,663 (GRCm39)	A128S	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ankar	C	A	1: 72,721,067 (GRCm39)	V464L	probably benign	Het
Arap2	A	T	5: 62,769,060 (GRCm39)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,004,996 (GRCm39)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,515,040 (GRCm39)	T243A	probably benign	Het
Baz2b	T	C	2: 59,809,031 (GRCm39)	T73A	probably benign	Het
Bnip5	A	T	17: 29,128,382 (GRCm39)	I177K	probably benign	Het
Brms1l	A	G	12: 55,906,876 (GRCm39)	S148G	probably damaging	Het
Btnl1	A	G	17: 34,603,335 (GRCm39)	D332G	probably benign	Het
Card9	T	A	2: 26,242,344 (GRCm39)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,340,472 (GRCm39)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,146,895 (GRCm39)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm39)	E487G	unknown	Het
Col22a1	T	C	15: 71,837,595 (GRCm39)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,018,196 (GRCm39)	V180A		Het
Dmxl2	A	G	9: 54,323,664 (GRCm39)	V1066A	unknown	Het
Dnah9	C	T	11: 65,867,347 (GRCm39)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,376,439 (GRCm39)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 140,907,743 (GRCm39)	Y134*	probably null	Het
Fmn1	C	T	2: 113,194,470 (GRCm39)	P57S	unknown	Het
Gm6309	T	C	5: 146,105,700 (GRCm39)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,463,605 (GRCm39)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,696,906 (GRCm39)	I422F	probably damaging	Het
Itfg1	A	G	8: 86,502,798 (GRCm39)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,399,138 (GRCm39)	V433A	probably benign	Het
Kif3a	T	C	11: 53,475,231 (GRCm39)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,467,490 (GRCm39)	D186G	probably damaging	Het
Lmntd2	T	C	7: 140,790,990 (GRCm39)	T448A	probably benign	Het
Magi2	C	T	5: 20,814,282 (GRCm39)	A898V	probably damaging	Het
Mri1	A	G	8: 84,982,929 (GRCm39)	V164A	probably damaging	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,237,632 (GRCm39)	R208*	probably null	Het
Or1j1	C	A	2: 36,702,567 (GRCm39)	C179F	probably damaging	Het
Or8g28	A	G	9: 39,169,737 (GRCm39)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,155,126 (GRCm39)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,528,563 (GRCm39)	P169A	probably benign	Het
Pramel52-ps	A	T	5: 94,531,805 (GRCm39)	R230*	probably null	Het
Prss36	T	C	7: 127,533,673 (GRCm39)	I556V	probably benign	Het
Psg23	A	T	7: 18,346,067 (GRCm39)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,676,675 (GRCm39)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,202 (GRCm39)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,658,629 (GRCm39)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,357,612 (GRCm39)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,182,055 (GRCm39)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,473,699 (GRCm39)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,611,512 (GRCm39)		probably null	Het
Tm9sf4	T	C	2: 153,037,294 (GRCm39)	F385S	probably benign	Het
Trpm4	A	T	7: 44,954,432 (GRCm39)	L1133*	probably null	Het
Trpm5	A	G	7: 142,633,131 (GRCm39)		probably null	Het
Ube4b	A	G	4: 149,468,231 (GRCm39)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,228,784 (GRCm39)	T420A	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Zc3h6	T	A	2: 128,858,102 (GRCm39)	I711K		Het
Zer1	T	C	2: 29,991,050 (GRCm39)	Y726C	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
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'- TAGAGGATCTGAGTGTCCCTGG -3'
(R):5'- GAGGTTTGATGCCCTCTTCTGATC -3'

Sequencing Primer
(F):5'- TCCCTGGTTAGGTGGCACTC -3'
(R):5'- GTTTGATGCCCTCTTCTGATCTCTTC -3'

Posted On

2022-08-09