Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Apol7a'

710854

Institutional Source

Beutler Lab

Gene Symbol

Apol7a

Ensembl Gene

ENSMUSG00000010601

Gene Name

apolipoprotein L 7a

Synonyms

9130022K13Rik, Apol3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77272419-77283310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77273925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 179 (E179G)

Ref Sequence

ENSEMBL: ENSMUSP00000010745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010745] [ENSMUST00000175789] [ENSMUST00000175919] [ENSMUST00000176074]

AlphaFold

B2RT54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010745
AA Change: E179G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000010745
Gene: ENSMUSG00000010601
AA Change: E179G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	82	2.4e-13	PFAM
low complexity region	84	95	N/A	INTRINSIC
Pfam:ApoL	123	416	1.8e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175789

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175919
AA Change: E179G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135864
Gene: ENSMUSG00000010601
AA Change: E179G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	416	3.1e-138	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176074
AA Change: E179G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134864
Gene: ENSMUSG00000010601
AA Change: E179G

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	416	3.1e-138	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	A	17: 85,000,282 (GRCm39)	F281I	probably damaging	Het
Acad8	A	G	9: 26,887,041 (GRCm39)	M402T	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Asmt	A	G	X: 169,110,141 (GRCm39)	T217A	probably benign	Het
Cadm2	T	C	16: 66,544,102 (GRCm39)	Y318C	probably damaging	Het
Cckar	G	A	5: 53,864,623 (GRCm39)	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,878,230 (GRCm39)	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,172,903 (GRCm39)	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,182,895 (GRCm39)	S1268N	probably damaging	Het
Csrnp3	C	T	2: 65,832,841 (GRCm39)	R127C	probably damaging	Het
Dsc2	T	A	18: 20,174,773 (GRCm39)	R501*	probably null	Het
Dusp2	C	T	2: 127,179,638 (GRCm39)	R294C	probably damaging	Het
Edrf1	A	G	7: 133,261,838 (GRCm39)	K878E	possibly damaging	Het
Evc	T	C	5: 37,476,434 (GRCm39)	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,194,390 (GRCm39)	K166*	probably null	Het
Fstl4	C	A	11: 52,664,778 (GRCm39)	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,313,659 (GRCm39)	I551N	probably benign	Het
Hc	G	T	2: 34,927,615 (GRCm39)	S333*	probably null	Het
Ibsp	A	G	5: 104,458,297 (GRCm39)	Y278C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,240,937 (GRCm39)	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,161,662 (GRCm39)	T531P	probably damaging	Het
Mapt	C	A	11: 104,189,555 (GRCm39)	P191Q	possibly damaging	Het
Myh9	T	C	15: 77,647,496 (GRCm39)	T1840A	probably benign	Het
Myof	A	T	19: 37,923,294 (GRCm39)	C1320S	probably damaging	Het
Myom3	G	T	4: 135,513,199 (GRCm39)	V626L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nhsl1	T	A	10: 18,399,749 (GRCm39)	M291K	probably damaging	Het
Nubp2	C	T	17: 25,103,476 (GRCm39)	V134I	probably benign	Het
Nuf2	T	C	1: 169,337,917 (GRCm39)	I287V	probably benign	Het
Or1d2	T	A	11: 74,256,089 (GRCm39)	M198K	probably benign	Het
Or2n1	T	A	17: 38,486,421 (GRCm39)	W149R	probably damaging	Het
Or4k42	A	G	2: 111,319,864 (GRCm39)	L213P	probably benign	Het
Or51i2	A	G	7: 103,689,720 (GRCm39)	N239S	probably benign	Het
Or55b4	A	C	7: 102,134,180 (GRCm39)	V49G	possibly damaging	Het
Or5k3	G	A	16: 58,969,302 (GRCm39)	V30M	probably damaging	Het
Or8k28	A	T	2: 86,285,845 (GRCm39)	C257S	probably benign	Het
Pals1	G	T	12: 78,871,521 (GRCm39)	R367L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r12a	A	G	10: 108,100,571 (GRCm39)	E863G	probably damaging	Het
Pskh1	C	T	8: 106,640,091 (GRCm39)	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,377,188 (GRCm39)	I334V	probably benign	Het
Rnf180	T	A	13: 105,318,027 (GRCm39)	K462*	probably null	Het
Sin3a	A	G	9: 57,008,445 (GRCm39)	D455G	probably benign	Het
Slc15a4	A	G	5: 127,694,463 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,915 (GRCm39)	T426A	probably benign	Het
Smarca5	T	C	8: 81,463,358 (GRCm39)	K70R	probably benign	Het
Smg1	A	G	7: 117,807,303 (GRCm39)	V182A	unknown	Het
Stim1	G	A	7: 102,064,592 (GRCm39)	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,609,432 (GRCm39)	D201G	probably damaging	Het
Tcf25	A	G	8: 124,127,831 (GRCm39)	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,523,472 (GRCm39)	N135S	possibly damaging	Het
Togaram1	A	G	12: 65,014,429 (GRCm39)	N560S	probably damaging	Het
Unc13d	A	G	11: 115,966,529 (GRCm39)		probably null	Het
Zfp445	A	C	9: 122,681,581 (GRCm39)	S787A	probably benign	Het
Zfp949	T	C	9: 88,449,260 (GRCm39)	W22R	probably damaging	Het

Other mutations in Apol7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Apol7a	APN	15	77,274,055 (GRCm39)	unclassified	probably benign
IGL01408:Apol7a	APN	15	77,273,530 (GRCm39)	missense	probably damaging	1.00
IGL01702:Apol7a	APN	15	77,273,886 (GRCm39)	splice site	probably null
IGL02215:Apol7a	APN	15	77,277,690 (GRCm39)	missense	possibly damaging	0.81
IGL02931:Apol7a	APN	15	77,277,650 (GRCm39)	nonsense	probably null
R0610:Apol7a	UTSW	15	77,273,454 (GRCm39)	missense	probably benign	0.06
R0652:Apol7a	UTSW	15	77,274,055 (GRCm39)	unclassified	probably benign
R1616:Apol7a	UTSW	15	77,273,806 (GRCm39)	missense	probably damaging	1.00
R1756:Apol7a	UTSW	15	77,277,671 (GRCm39)	missense	possibly damaging	0.93
R3034:Apol7a	UTSW	15	77,273,923 (GRCm39)	missense	probably benign	0.03
R4566:Apol7a	UTSW	15	77,273,951 (GRCm39)	nonsense	probably null
R5059:Apol7a	UTSW	15	77,274,012 (GRCm39)	unclassified	probably benign
R6807:Apol7a	UTSW	15	77,277,520 (GRCm39)	splice site	probably null
R6995:Apol7a	UTSW	15	77,274,176 (GRCm39)	unclassified	probably benign
R7824:Apol7a	UTSW	15	77,273,275 (GRCm39)	missense	probably damaging	1.00
R8364:Apol7a	UTSW	15	77,273,820 (GRCm39)	missense	possibly damaging	0.51
R8375:Apol7a	UTSW	15	77,273,547 (GRCm39)	missense	probably damaging	1.00
R9471:Apol7a	UTSW	15	77,273,680 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCTGACAATGCCAGACTGAC -3'
(R):5'- AGTGTAGCTGATACTGATGTAGAAG -3'

Sequencing Primer
(F):5'- AGACTGACTCCTGCTGTCACAG -3'
(R):5'- GCTGATACTGATGTAGAAGATGAAG -3'

Posted On

2022-04-18