Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:AAdacl4fm3'

701473

Institutional Source

Beutler Lab

Gene Symbol

AAdacl4fm3

Ensembl Gene

ENSMUSG00000041735

Gene Name

AADACL4 family member 3

Synonyms

Gm13178

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R9250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144429761-144447974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144442011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 80 (I80K)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036876]

AlphaFold

B1AVU7

Predicted Effect

probably benign
Transcript: ENSMUST00000036876
AA Change: I80K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: I80K

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
low complexity region	79	84	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	286	2.3e-27	PFAM
Pfam:Abhydrolase_3	287	382	8.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,258,259 (GRCm39)	S119P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,928,909 (GRCm39)	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Sf1	C	T	19: 6,424,764 (GRCm39)	P473L	unknown	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Thoc2l	A	G	5: 104,667,320 (GRCm39)	Y614C	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp17le	T	G	7: 104,418,839 (GRCm39)	Q101P	probably damaging	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	probably damaging	Het

Other mutations in AAdacl4fm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:AAdacl4fm3	APN	4	144,430,263 (GRCm39)	missense	possibly damaging	0.87
IGL01985:AAdacl4fm3	APN	4	144,442,024 (GRCm39)	nonsense	probably null
IGL02587:AAdacl4fm3	APN	4	144,429,969 (GRCm39)	missense	possibly damaging	0.94
P0018:AAdacl4fm3	UTSW	4	144,429,767 (GRCm39)	missense	probably benign	0.00
R0395:AAdacl4fm3	UTSW	4	144,429,765 (GRCm39)	missense	probably benign	0.14
R1617:AAdacl4fm3	UTSW	4	144,441,961 (GRCm39)	missense	probably damaging	1.00
R3802:AAdacl4fm3	UTSW	4	144,430,074 (GRCm39)	missense	possibly damaging	0.82
R4409:AAdacl4fm3	UTSW	4	144,447,872 (GRCm39)	missense	possibly damaging	0.86
R4577:AAdacl4fm3	UTSW	4	144,430,323 (GRCm39)	missense	probably damaging	1.00
R4603:AAdacl4fm3	UTSW	4	144,429,798 (GRCm39)	missense	probably benign	0.00
R5069:AAdacl4fm3	UTSW	4	144,430,437 (GRCm39)	missense	probably damaging	1.00
R5801:AAdacl4fm3	UTSW	4	144,430,206 (GRCm39)	missense	probably damaging	1.00
R5802:AAdacl4fm3	UTSW	4	144,430,206 (GRCm39)	missense	probably damaging	1.00
R5893:AAdacl4fm3	UTSW	4	144,429,766 (GRCm39)	missense	probably benign
R6148:AAdacl4fm3	UTSW	4	144,447,887 (GRCm39)	missense	possibly damaging	0.89
R6466:AAdacl4fm3	UTSW	4	144,430,437 (GRCm39)	missense	probably damaging	1.00
R6655:AAdacl4fm3	UTSW	4	144,431,815 (GRCm39)	missense	probably damaging	1.00
R7006:AAdacl4fm3	UTSW	4	144,447,853 (GRCm39)	missense	probably benign	0.00
R7021:AAdacl4fm3	UTSW	4	144,442,062 (GRCm39)	missense	probably damaging	1.00
R7030:AAdacl4fm3	UTSW	4	144,430,173 (GRCm39)	missense	possibly damaging	0.85
R7514:AAdacl4fm3	UTSW	4	144,429,798 (GRCm39)	missense	possibly damaging	0.66
R7773:AAdacl4fm3	UTSW	4	144,430,047 (GRCm39)	missense	probably damaging	0.98
R7791:AAdacl4fm3	UTSW	4	144,430,015 (GRCm39)	missense	probably damaging	1.00
R8012:AAdacl4fm3	UTSW	4	144,429,972 (GRCm39)	missense	possibly damaging	0.48
R8082:AAdacl4fm3	UTSW	4	144,441,897 (GRCm39)	missense	probably damaging	1.00
R9721:AAdacl4fm3	UTSW	4	144,429,942 (GRCm39)	missense	possibly damaging	0.94
Z1176:AAdacl4fm3	UTSW	4	144,429,895 (GRCm39)	missense	probably damaging	1.00
Z1177:AAdacl4fm3	UTSW	4	144,430,216 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGCTGACAAGTCCTCATGAG -3'
(R):5'- CCTGAGTGAGGCTAAGTGTCTTC -3'

Sequencing Primer
(F):5'- CAAGTCCTCATGAGAATGTGTGC -3'
(R):5'- GAGGCTAAGTGTCTTCAGCATCAAC -3'

Posted On

2022-03-25