Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Aadacl4fm1'

38274

Institutional Source

Beutler Lab

Gene Symbol

Aadacl4fm1

Ensembl Gene

ENSMUSG00000028593

Gene Name

AADACL4 family member 1

Synonyms

9430007A20Rik, LOC381572

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0320 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144246392-144255923 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144248990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 119 (H119L)

Ref Sequence

ENSEMBL: ENSMUSP00000030328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030328]

AlphaFold

Q8BM81

Predicted Effect

probably damaging
Transcript: ENSMUST00000030328
AA Change: H119L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: H119L

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:Abhydrolase_3	115	286	6.2e-32	PFAM
Pfam:Abhydrolase_3	273	381	7.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120637

Meta Mutation Damage Score

0.9252

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Cit	C	A	5: 116,117,504 (GRCm39)	L1227M	possibly damaging	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dop1b	C	A	16: 93,607,035 (GRCm39)	R2113S	probably benign	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Eif5a	G	T	11: 69,808,305 (GRCm39)	T64K	probably benign	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or1e23	T	G	11: 73,407,750 (GRCm39)	I92L	probably damaging	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Wnt16	T	G	6: 22,297,992 (GRCm39)	V286G	possibly damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	probably damaging	Het

Other mutations in Aadacl4fm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Aadacl4fm1	APN	4	144,255,192 (GRCm39)	missense	possibly damaging	0.92
IGL01866:Aadacl4fm1	APN	4	144,255,119 (GRCm39)	missense	possibly damaging	0.85
IGL02736:Aadacl4fm1	APN	4	144,255,207 (GRCm39)	missense	probably benign	0.15
IGL02928:Aadacl4fm1	APN	4	144,255,802 (GRCm39)	missense	possibly damaging	0.93
IGL03236:Aadacl4fm1	APN	4	144,246,486 (GRCm39)	missense	probably benign	0.00
R0023:Aadacl4fm1	UTSW	4	144,255,567 (GRCm39)	missense	probably damaging	1.00
R0023:Aadacl4fm1	UTSW	4	144,255,567 (GRCm39)	missense	probably damaging	1.00
R0304:Aadacl4fm1	UTSW	4	144,246,619 (GRCm39)	missense	probably benign	0.44
R0987:Aadacl4fm1	UTSW	4	144,246,502 (GRCm39)	missense	possibly damaging	0.81
R1124:Aadacl4fm1	UTSW	4	144,255,194 (GRCm39)	missense	probably benign	0.00
R1202:Aadacl4fm1	UTSW	4	144,250,236 (GRCm39)	missense	probably benign	0.07
R1708:Aadacl4fm1	UTSW	4	144,246,511 (GRCm39)	missense	probably benign	0.36
R2238:Aadacl4fm1	UTSW	4	144,246,469 (GRCm39)	missense	possibly damaging	0.88
R2334:Aadacl4fm1	UTSW	4	144,255,429 (GRCm39)	missense	probably damaging	1.00
R2351:Aadacl4fm1	UTSW	4	144,255,348 (GRCm39)	missense	probably damaging	1.00
R4913:Aadacl4fm1	UTSW	4	144,255,381 (GRCm39)	missense	possibly damaging	0.93
R5153:Aadacl4fm1	UTSW	4	144,248,837 (GRCm39)	missense	probably benign	0.06
R6312:Aadacl4fm1	UTSW	4	144,255,072 (GRCm39)	missense	probably benign
R6379:Aadacl4fm1	UTSW	4	144,248,912 (GRCm39)	missense	probably benign	0.10
R7555:Aadacl4fm1	UTSW	4	144,248,924 (GRCm39)	missense	probably damaging	0.99
R8077:Aadacl4fm1	UTSW	4	144,255,126 (GRCm39)	missense	probably benign	0.20
R9712:Aadacl4fm1	UTSW	4	144,255,354 (GRCm39)	missense	probably benign	0.06
Z1088:Aadacl4fm1	UTSW	4	144,255,239 (GRCm39)	missense	probably damaging	1.00
Z1177:Aadacl4fm1	UTSW	4	144,255,282 (GRCm39)	nonsense	probably null
Z1177:Aadacl4fm1	UTSW	4	144,255,070 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTCCACTGTTGGTGCAAATTG -3'
(R):5'- TGTTCTGTAAGGTCCAGCCTCCTAC -3'

Sequencing Primer
(F):5'- TCCTACAGGGGCATATACTCG -3'
(R):5'- CTTTGACTGGCAGGCCAATG -3'

Posted On

2013-05-23