Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Abca14'

238747

Institutional Source

Beutler Lab

Gene Symbol

Abca14

Ensembl Gene

ENSMUSG00000062017

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 14

Synonyms

1700110B15Rik, 4930539G24Rik

MMRRC Submission

040204-MU

Accession Numbers

Genbank: NM_026458; MGI: 2388708

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120203961-120325352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120289541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1237 (Y1237H)

Ref Sequence

ENSEMBL: ENSMUSP00000081690 (fasta)

Gene Model

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

AlphaFold

E9Q8F8

Predicted Effect

probably benign
Transcript: ENSMUST00000084640
AA Change: Y1237H

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081690
Gene: ENSMUSG00000062017
AA Change: Y1237H

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,668 (GRCm38)	V249A	possibly damaging	Het
5330417C22Rik	C	T	3: 108,475,043 (GRCm38)	G270E	probably damaging	Het
9930111J21Rik2	C	G	11: 49,019,322 (GRCm38)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm38)	T386I	probably damaging	Het
Abi3bp	C	T	16: 56,650,725 (GRCm38)	R578*	probably null	Het
Abi3bp	T	G	16: 56,613,203 (GRCm38)	L550R	probably benign	Het
Adamts7	A	T	9: 90,180,676 (GRCm38)	K394N	probably damaging	Het
Ahdc1	A	G	4: 133,065,909 (GRCm38)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,374,526 (GRCm38)	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,523,882 (GRCm38)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015 (GRCm38)	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,453,515 (GRCm38)	T11K	probably benign	Het
Calr3	A	G	8: 72,434,839 (GRCm38)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,745,287 (GRCm38)	D1119E	unknown	Het
Cdan1	C	A	2: 120,720,760 (GRCm38)	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,210,638 (GRCm38)	S441A	unknown	Het
Ces4a	T	A	8: 105,146,114 (GRCm38)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,214,680 (GRCm38)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,478,668 (GRCm38)	D856E	probably benign	Het
Chil3	T	C	3: 106,164,246 (GRCm38)	D34G	probably benign	Het
Cln3	T	A	7: 126,579,218 (GRCm38)	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,819 (GRCm38)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694 (GRCm38)	D976A	probably benign	Het
Dcstamp	T	A	15: 39,754,312 (GRCm38)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,731,038 (GRCm38)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,344,713 (GRCm38)	T1331A	probably benign	Het
Fam184a	T	A	10: 53,652,434 (GRCm38)	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,688,557 (GRCm38)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,508 (GRCm38)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,546,962 (GRCm38)	M463K	probably benign	Het
Garem2	A	G	5: 30,114,764 (GRCm38)	D408G	probably benign	Het
Gm12169	A	G	11: 46,528,567 (GRCm38)	N70S	probably benign	Het
Gm6370	T	A	5: 146,493,729 (GRCm38)	D241E	probably benign	Het
Gpc3	T	A	X: 52,397,206 (GRCm38)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,511,542 (GRCm38)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,291,183 (GRCm38)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,718,344 (GRCm38)		probably null	Het
Ints8	A	T	4: 11,225,712 (GRCm38)	M615K	possibly damaging	Het
Irak1	G	A	X: 74,017,138 (GRCm38)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,239,463 (GRCm38)		probably null	Het
Knstrn	T	A	2: 118,830,975 (GRCm38)		probably null	Het
Letm1	C	A	5: 33,769,486 (GRCm38)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,722,911 (GRCm38)	P95L	probably damaging	Het
Map2k2	T	C	10: 81,119,379 (GRCm38)	S14P	probably damaging	Het
Me3	T	C	7: 89,850,381 (GRCm38)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 126,391,295 (GRCm38)	E178G	probably benign	Het
Nop56	T	A	2: 130,277,568 (GRCm38)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,855,983 (GRCm38)	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609 (GRCm38)	G93A	probably benign	Het
Olfr164	C	T	16: 19,286,297 (GRCm38)	A149T	probably benign	Het
Olfr714	T	A	7: 107,074,316 (GRCm38)	W163R	probably damaging	Het
Pbrm1	A	G	14: 31,032,449 (GRCm38)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,352,044 (GRCm38)	N231K	probably benign	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pid1	T	A	1: 84,038,438 (GRCm38)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,537,360 (GRCm38)	S1091P	probably benign	Het
Plcb4	T	C	2: 136,002,594 (GRCm38)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,962,764 (GRCm38)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,956,400 (GRCm38)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,223,464 (GRCm38)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,650 (GRCm38)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,612,800 (GRCm38)		probably null	Het
Rbm8a2	T	C	1: 175,978,854 (GRCm38)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,690,504 (GRCm38)	S336P	probably damaging	Het
Serpina11	G	T	12: 103,985,974 (GRCm38)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,693,396 (GRCm38)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,436,762 (GRCm38)	T159I	probably benign	Het
Slc19a1	T	C	10: 77,041,924 (GRCm38)	C98R	possibly damaging	Het
Slc22a20	A	T	19: 5,971,525 (GRCm38)	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,731,621 (GRCm38)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm38)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm38)	L531P	possibly damaging	Het
Tex45	A	T	8: 3,479,028 (GRCm38)	D201V	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm38)		probably null	Het
Tmem39b	A	C	4: 129,693,923 (GRCm38)	S32A	probably benign	Het
Tmx3	T	C	18: 90,527,913 (GRCm38)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,190,638 (GRCm38)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,199,042 (GRCm38)		probably null	Het
Tssk2	A	G	16: 17,898,739 (GRCm38)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641 (GRCm38)	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,389,074 (GRCm38)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,926,619 (GRCm38)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,601,439 (GRCm38)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,864,170 (GRCm38)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,356,685 (GRCm38)	H32L	probably benign	Het
Wsb1	T	C	11: 79,240,386 (GRCm38)	I395V	probably benign	Het
Zfat	T	C	15: 68,179,860 (GRCm38)	D695G	probably benign	Het
Zfp358	G	T	8: 3,496,995 (GRCm38)	V526F	possibly damaging	Het
Zfp651	A	G	9: 121,762,637 (GRCm38)	T8A	possibly damaging	Het
Zmat1	A	G	X: 134,973,112 (GRCm38)	L476P	possibly damaging	Het

Other mutations in Abca14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Abca14	APN	7	120,246,853 (GRCm38)	missense	probably damaging	1.00
IGL00800:Abca14	APN	7	120,255,390 (GRCm38)	missense	probably benign	0.01
IGL00845:Abca14	APN	7	120,223,951 (GRCm38)	splice site	probably benign
IGL00897:Abca14	APN	7	120,216,125 (GRCm38)	splice site	probably benign
IGL01524:Abca14	APN	7	120,253,421 (GRCm38)	missense	possibly damaging	0.57
IGL01747:Abca14	APN	7	120,278,087 (GRCm38)	missense	probably benign	0.00
IGL02214:Abca14	APN	7	120,294,175 (GRCm38)	missense	probably benign	0.09
IGL02215:Abca14	APN	7	120,253,389 (GRCm38)	missense	probably benign	0.00
IGL02253:Abca14	APN	7	120,207,959 (GRCm38)	missense	probably benign	0.29
IGL02302:Abca14	APN	7	120,318,745 (GRCm38)	splice site	probably benign
IGL03391:Abca14	APN	7	120,246,884 (GRCm38)	missense	probably damaging	1.00
F6893:Abca14	UTSW	7	120,325,038 (GRCm38)	missense	probably damaging	0.98
R0109:Abca14	UTSW	7	120,318,762 (GRCm38)	nonsense	probably null
R0109:Abca14	UTSW	7	120,318,762 (GRCm38)	nonsense	probably null
R0265:Abca14	UTSW	7	120,223,627 (GRCm38)	missense	probably benign	0.03
R0326:Abca14	UTSW	7	120,224,419 (GRCm38)	missense	probably damaging	1.00
R0380:Abca14	UTSW	7	120,278,480 (GRCm38)	missense	probably benign	0.03
R0418:Abca14	UTSW	7	120,207,434 (GRCm38)	missense	probably damaging	1.00
R0539:Abca14	UTSW	7	120,207,797 (GRCm38)	missense	probably damaging	1.00
R0574:Abca14	UTSW	7	120,224,497 (GRCm38)	missense	probably damaging	0.96
R0611:Abca14	UTSW	7	120,252,256 (GRCm38)	missense	possibly damaging	0.63
R0783:Abca14	UTSW	7	120,294,157 (GRCm38)	missense	probably damaging	1.00
R0785:Abca14	UTSW	7	120,294,157 (GRCm38)	missense	probably damaging	1.00
R0863:Abca14	UTSW	7	120,216,230 (GRCm38)	missense	probably benign	0.03
R1034:Abca14	UTSW	7	120,216,147 (GRCm38)	missense	probably damaging	1.00
R1056:Abca14	UTSW	7	120,325,072 (GRCm38)	missense	probably damaging	1.00
R1072:Abca14	UTSW	7	120,212,769 (GRCm38)	missense	probably benign
R1244:Abca14	UTSW	7	120,216,338 (GRCm38)	missense	probably benign	0.06
R1255:Abca14	UTSW	7	120,207,793 (GRCm38)	missense	probably damaging	0.97
R1271:Abca14	UTSW	7	120,325,117 (GRCm38)	missense	probably damaging	1.00
R1325:Abca14	UTSW	7	120,247,322 (GRCm38)	missense	probably benign	0.32
R1457:Abca14	UTSW	7	120,289,460 (GRCm38)	missense	probably benign	0.00
R1467:Abca14	UTSW	7	120,216,182 (GRCm38)	missense	possibly damaging	0.80
R1467:Abca14	UTSW	7	120,216,182 (GRCm38)	missense	possibly damaging	0.80
R1494:Abca14	UTSW	7	120,216,301 (GRCm38)	missense	probably benign	0.00
R1551:Abca14	UTSW	7	120,318,878 (GRCm38)	missense	probably benign	0.10
R1607:Abca14	UTSW	7	120,251,291 (GRCm38)	missense	probably damaging	1.00
R1739:Abca14	UTSW	7	120,278,306 (GRCm38)	missense	probably benign	0.04
R1856:Abca14	UTSW	7	120,278,181 (GRCm38)	missense	probably damaging	1.00
R1875:Abca14	UTSW	7	120,247,967 (GRCm38)	missense	possibly damaging	0.78
R1892:Abca14	UTSW	7	120,216,338 (GRCm38)	missense	probably benign	0.06
R1898:Abca14	UTSW	7	120,251,169 (GRCm38)	missense	probably damaging	1.00
R1958:Abca14	UTSW	7	120,325,159 (GRCm38)	missense	probably damaging	0.98
R2018:Abca14	UTSW	7	120,216,185 (GRCm38)	missense	probably benign	0.00
R2039:Abca14	UTSW	7	120,312,264 (GRCm38)	missense	probably damaging	0.98
R2060:Abca14	UTSW	7	120,227,518 (GRCm38)	nonsense	probably null
R2205:Abca14	UTSW	7	120,247,280 (GRCm38)	missense	probably damaging	0.98
R2360:Abca14	UTSW	7	120,251,208 (GRCm38)	missense	probably benign	0.00
R2401:Abca14	UTSW	7	120,283,089 (GRCm38)	missense	probably damaging	1.00
R2426:Abca14	UTSW	7	120,283,223 (GRCm38)	missense	probably benign	0.04
R3433:Abca14	UTSW	7	120,294,232 (GRCm38)	missense	probably damaging	0.97
R4598:Abca14	UTSW	7	120,255,403 (GRCm38)	missense	probably benign	0.11
R4599:Abca14	UTSW	7	120,255,403 (GRCm38)	missense	probably benign	0.11
R4700:Abca14	UTSW	7	120,312,705 (GRCm38)	critical splice donor site	probably null
R4751:Abca14	UTSW	7	120,312,177 (GRCm38)	missense	probably benign	0.01
R4826:Abca14	UTSW	7	120,216,247 (GRCm38)	missense	probably damaging	1.00
R4828:Abca14	UTSW	7	120,216,247 (GRCm38)	missense	probably damaging	1.00
R4837:Abca14	UTSW	7	120,246,980 (GRCm38)	missense	probably benign
R4881:Abca14	UTSW	7	120,278,249 (GRCm38)	missense	possibly damaging	0.49
R4895:Abca14	UTSW	7	120,247,349 (GRCm38)	critical splice donor site	probably null
R4928:Abca14	UTSW	7	120,324,580 (GRCm38)	missense	possibly damaging	0.90
R4990:Abca14	UTSW	7	120,312,165 (GRCm38)	missense	probably benign	0.00
R5027:Abca14	UTSW	7	120,312,282 (GRCm38)	missense	probably benign	0.05
R5091:Abca14	UTSW	7	120,252,274 (GRCm38)	missense	probably damaging	1.00
R5158:Abca14	UTSW	7	120,253,429 (GRCm38)	missense	probably benign
R5209:Abca14	UTSW	7	120,232,907 (GRCm38)	missense	probably benign	0.01
R5333:Abca14	UTSW	7	120,289,546 (GRCm38)	nonsense	probably null
R5424:Abca14	UTSW	7	120,211,554 (GRCm38)	missense	probably benign	0.01
R5488:Abca14	UTSW	7	120,252,250 (GRCm38)	missense	probably damaging	0.98
R5489:Abca14	UTSW	7	120,252,250 (GRCm38)	missense	probably damaging	0.98
R5716:Abca14	UTSW	7	120,246,994 (GRCm38)	critical splice donor site	probably null
R6450:Abca14	UTSW	7	120,216,226 (GRCm38)	missense	probably benign	0.17
R6477:Abca14	UTSW	7	120,325,102 (GRCm38)	missense	probably benign	0.44
R6652:Abca14	UTSW	7	120,246,941 (GRCm38)	missense	probably damaging	1.00
R6782:Abca14	UTSW	7	120,248,085 (GRCm38)	missense	probably damaging	1.00
R6874:Abca14	UTSW	7	120,252,205 (GRCm38)	missense	possibly damaging	0.71
R6965:Abca14	UTSW	7	120,283,229 (GRCm38)	nonsense	probably null
R7142:Abca14	UTSW	7	120,251,183 (GRCm38)	missense	possibly damaging	0.89
R7146:Abca14	UTSW	7	120,255,297 (GRCm38)	missense	probably benign	0.15
R7202:Abca14	UTSW	7	120,318,013 (GRCm38)	missense	probably damaging	1.00
R7220:Abca14	UTSW	7	120,227,444 (GRCm38)	missense	possibly damaging	0.45
R7241:Abca14	UTSW	7	120,246,961 (GRCm38)	missense	probably damaging	1.00
R7291:Abca14	UTSW	7	120,289,609 (GRCm38)	nonsense	probably null
R7296:Abca14	UTSW	7	120,278,311 (GRCm38)	missense	probably benign
R7298:Abca14	UTSW	7	120,207,883 (GRCm38)	missense	probably benign	0.00
R7315:Abca14	UTSW	7	120,294,118 (GRCm38)	missense	probably benign	0.00
R7776:Abca14	UTSW	7	120,232,991 (GRCm38)	critical splice donor site	probably null
R7820:Abca14	UTSW	7	120,212,721 (GRCm38)	missense	probably benign	0.42
R7873:Abca14	UTSW	7	120,289,569 (GRCm38)	missense	probably benign	0.17
R8215:Abca14	UTSW	7	120,294,202 (GRCm38)	missense	probably benign
R8332:Abca14	UTSW	7	120,216,213 (GRCm38)	missense	probably benign
R8419:Abca14	UTSW	7	120,216,266 (GRCm38)	missense	probably benign	0.08
R8444:Abca14	UTSW	7	120,318,910 (GRCm38)	missense	probably damaging	1.00
R8818:Abca14	UTSW	7	120,216,301 (GRCm38)	missense	probably benign	0.00
R8834:Abca14	UTSW	7	120,278,149 (GRCm38)	missense	probably benign	0.02
R8845:Abca14	UTSW	7	120,247,205 (GRCm38)	missense	probably benign	0.00
R8889:Abca14	UTSW	7	120,216,383 (GRCm38)	missense	probably damaging	1.00
R8892:Abca14	UTSW	7	120,216,383 (GRCm38)	missense	probably damaging	1.00
R8894:Abca14	UTSW	7	120,248,145 (GRCm38)	missense	probably damaging	1.00
R8903:Abca14	UTSW	7	120,216,303 (GRCm38)	missense	probably damaging	0.98
R8950:Abca14	UTSW	7	120,224,372 (GRCm38)	missense	possibly damaging	0.92
R8950:Abca14	UTSW	7	120,224,421 (GRCm38)	nonsense	probably null
R9018:Abca14	UTSW	7	120,319,309 (GRCm38)	missense	probably damaging	0.98
R9018:Abca14	UTSW	7	120,289,540 (GRCm38)	missense	probably benign	0.01
R9110:Abca14	UTSW	7	120,232,392 (GRCm38)	intron	probably benign
R9254:Abca14	UTSW	7	120,207,979 (GRCm38)	nonsense	probably null
R9376:Abca14	UTSW	7	120,294,215 (GRCm38)	missense	probably damaging	1.00
R9378:Abca14	UTSW	7	120,207,968 (GRCm38)	missense	possibly damaging	0.64
R9379:Abca14	UTSW	7	120,207,979 (GRCm38)	nonsense	probably null
R9388:Abca14	UTSW	7	120,283,038 (GRCm38)	missense	probably benign	0.01
R9445:Abca14	UTSW	7	120,278,468 (GRCm38)	missense	probably benign	0.05
R9522:Abca14	UTSW	7	120,248,145 (GRCm38)	missense	probably null	0.98
R9577:Abca14	UTSW	7	120,211,545 (GRCm38)	missense	probably benign	0.27
R9627:Abca14	UTSW	7	120,255,307 (GRCm38)	missense	probably benign	0.00
R9639:Abca14	UTSW	7	120,294,122 (GRCm38)	missense	probably benign	0.01
R9660:Abca14	UTSW	7	120,252,255 (GRCm38)	missense	probably benign	0.00
R9696:Abca14	UTSW	7	120,289,511 (GRCm38)	missense	possibly damaging	0.59
R9709:Abca14	UTSW	7	120,289,516 (GRCm38)	nonsense	probably null
R9780:Abca14	UTSW	7	120,312,224 (GRCm38)	missense	probably benign	0.00
Z1088:Abca14	UTSW	7	120,216,135 (GRCm38)	missense	probably benign	0.14
Z1176:Abca14	UTSW	7	120,246,923 (GRCm38)	missense	probably damaging	1.00
Z1177:Abca14	UTSW	7	120,317,987 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGGTAGACTAGCTAGTGGC -3'
(R):5'- CTTGAGTTTTACAGATACACAGGG -3'

Sequencing Primer
(F):5'- TTCTTTGAGACTAATACTATGCCTTG -3'
(R):5'- TTTTACAGATACACAGGGATGACG -3'

Posted On

2014-10-02