Mutagenetix > Incidental Mutation

Incidental Mutation 'R8162:Apol7b'

633592

Institutional Source

Beutler Lab

Gene Symbol

Apol7b

Ensembl Gene

ENSMUSG00000068252

Gene Name

apolipoprotein L 7b

Synonyms

MMRRC Submission

067588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77306409-77331660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77307430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 355 (Q355L)

Ref Sequence

ENSEMBL: ENSMUSP00000086894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089469]

AlphaFold

B1AQP7

Predicted Effect

probably benign
Transcript: ENSMUST00000089469
AA Change: Q355L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086894
Gene: ENSMUSG00000068252
AA Change: Q355L

Domain	Start	End	E-Value	Type
Pfam:ApoL	20	82	7.9e-15	PFAM
Pfam:ApoL	77	367	1.9e-123	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb14	A	T	14: 26,633,945 (GRCm39)	Q383H	probably benign	Het
Ash1l	T	G	3: 88,977,553 (GRCm39)	M2661R	probably damaging	Het
Cacna1e	G	T	1: 154,577,313 (GRCm39)		probably null	Het
Ccdc40	G	T	11: 119,150,870 (GRCm39)		probably null	Het
Cd27	T	A	6: 125,210,188 (GRCm39)		probably null	Het
Ces3b	T	C	8: 105,817,385 (GRCm39)	L371S	possibly damaging	Het
Clec4a2	T	A	6: 123,117,711 (GRCm39)	Y210N	probably damaging	Het
Cpeb2	A	T	5: 43,394,681 (GRCm39)	H553L		Het
Cpne8	T	C	15: 90,503,881 (GRCm39)	I95V	probably benign	Het
D630039A03Rik	T	C	4: 57,910,525 (GRCm39)	T96A	probably benign	Het
Dand5	C	A	8: 85,543,147 (GRCm39)	G110C	probably damaging	Het
Erich3	C	T	3: 154,470,210 (GRCm39)	T1554M	unknown	Het
Evi5l	T	C	8: 4,241,300 (GRCm39)	S278P	probably damaging	Het
Farp2	C	A	1: 93,548,325 (GRCm39)	H1003Q	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gm13741	A	C	2: 87,486,446 (GRCm39)	M273R	possibly damaging	Het
Gm28363	T	A	1: 117,626,641 (GRCm39)	D26E	unknown	Het
Gm8674	A	T	13: 50,054,407 (GRCm39)	D700E	noncoding transcript	Het
Gtf3c4	G	A	2: 28,724,593 (GRCm39)	Q380*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1a	A	T	2: 129,148,477 (GRCm39)	S78T	possibly damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Mcc	T	C	18: 44,582,508 (GRCm39)		probably null	Het
Met	A	G	6: 17,547,061 (GRCm39)	D898G	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Mrgpra4	A	T	7: 47,631,221 (GRCm39)	Y127N	probably damaging	Het
Ms4a18	A	G	19: 10,991,071 (GRCm39)	S8P	probably benign	Het
Muc4	A	T	16: 32,569,197 (GRCm39)	T148S	unknown	Het
Nutm1	G	A	2: 112,078,817 (GRCm39)	L1033F	probably benign	Het
Ocstamp	G	T	2: 165,239,787 (GRCm39)	A133D	probably damaging	Het
Or1ab2	T	G	8: 72,864,253 (GRCm39)	V281G	noncoding transcript	Het
Or5p63	T	C	7: 107,810,995 (GRCm39)	H247R	probably damaging	Het
Or8g17	T	A	9: 38,930,249 (GRCm39)	D196V	probably benign	Het
Or9s18	G	A	13: 65,300,734 (GRCm39)	R232Q	probably damaging	Het
Phf12	C	A	11: 77,915,651 (GRCm39)	P46Q	probably damaging	Het
Prf1	A	G	10: 61,138,749 (GRCm39)	T236A	probably damaging	Het
Ptcd3	A	G	6: 71,884,798 (GRCm39)	V47A	probably benign	Het
Rapgef1	A	T	2: 29,626,011 (GRCm39)	N1071Y	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	C	A	6: 76,473,558 (GRCm39)	A353S	probably benign	Het
Tango6	C	T	8: 107,409,882 (GRCm39)	P33L	possibly damaging	Het
Tasor2	G	T	13: 3,649,691 (GRCm39)	T36N	probably damaging	Het
Tbc1d2b	C	T	9: 90,089,937 (GRCm39)	R864H	probably damaging	Het
Tent2	A	G	13: 93,304,432 (GRCm39)		probably null	Het
Trav10n	A	T	14: 53,359,929 (GRCm39)	I69L	probably benign	Het
Tsks	A	G	7: 44,603,296 (GRCm39)	Q366R	probably damaging	Het
Vcan	G	T	13: 89,853,106 (GRCm39)	S618*	probably null	Het
Vwf	T	A	6: 125,622,799 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,206 (GRCm39)	L124*	probably null	Het

Other mutations in Apol7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Apol7b	APN	15	77,308,114 (GRCm39)	missense	probably damaging	1.00
IGL02081:Apol7b	APN	15	77,307,736 (GRCm39)	missense	possibly damaging	0.83
IGL02350:Apol7b	APN	15	77,307,832 (GRCm39)	missense	probably benign	0.05
IGL02357:Apol7b	APN	15	77,307,832 (GRCm39)	missense	probably benign	0.05
R0506:Apol7b	UTSW	15	77,309,728 (GRCm39)	missense	probably benign	0.02
R1187:Apol7b	UTSW	15	77,307,603 (GRCm39)	missense	possibly damaging	0.94
R1433:Apol7b	UTSW	15	77,309,746 (GRCm39)	missense	probably damaging	1.00
R1978:Apol7b	UTSW	15	77,307,539 (GRCm39)	missense	probably damaging	0.99
R2272:Apol7b	UTSW	15	77,307,910 (GRCm39)	missense	probably damaging	1.00
R4012:Apol7b	UTSW	15	77,308,909 (GRCm39)	missense	probably damaging	0.98
R4485:Apol7b	UTSW	15	77,307,866 (GRCm39)	missense	probably benign
R4571:Apol7b	UTSW	15	77,307,734 (GRCm39)	missense	probably benign	0.01
R4823:Apol7b	UTSW	15	77,311,982 (GRCm39)	utr 5 prime	probably benign
R5018:Apol7b	UTSW	15	77,308,916 (GRCm39)	missense	probably benign	0.03
R5944:Apol7b	UTSW	15	77,307,967 (GRCm39)	missense	probably damaging	0.99
R6514:Apol7b	UTSW	15	77,308,126 (GRCm39)	missense	probably benign	0.00
R6519:Apol7b	UTSW	15	77,307,548 (GRCm39)	missense	probably benign	0.01
R6808:Apol7b	UTSW	15	77,308,873 (GRCm39)	missense	probably damaging	1.00
R6904:Apol7b	UTSW	15	77,307,625 (GRCm39)	missense	probably benign	0.09
R7570:Apol7b	UTSW	15	77,307,674 (GRCm39)	missense	probably benign	0.00
R7571:Apol7b	UTSW	15	77,307,677 (GRCm39)	missense	probably benign	0.07
R7603:Apol7b	UTSW	15	77,307,656 (GRCm39)	missense	possibly damaging	0.46
R8963:Apol7b	UTSW	15	77,308,120 (GRCm39)	missense	possibly damaging	0.88
R9028:Apol7b	UTSW	15	77,307,616 (GRCm39)	missense	probably damaging	1.00
R9642:Apol7b	UTSW	15	77,308,103 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGGCTGAACTGCAAGG -3'
(R):5'- TAAGCGCCTCATGACCACAG -3'

Sequencing Primer
(F):5'- TGGCTGAACTGCAAGGCTGTATAG -3'
(R):5'- AAGGAAGCCTTTGGAGGTACTGC -3'

Posted On

2020-07-13