Mutagenetix > Incidental Mutation

Incidental Mutation 'R8241:Klhl8'

637548

Institutional Source

Beutler Lab

Gene Symbol

Klhl8

Ensembl Gene

ENSMUSG00000029312

Gene Name

kelch-like 8

Synonyms

D5Ertd431e, 2310001P09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104009916-104059137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104015392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 511 (V511I)

Ref Sequence

ENSEMBL: ENSMUSP00000031254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031254] [ENSMUST00000112811] [ENSMUST00000112815] [ENSMUST00000131843]

AlphaFold

P59280

Predicted Effect

probably damaging
Transcript: ENSMUST00000031254
AA Change: V511I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: V511I

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
BTB	76	173	1.14e-24	SMART
BACK	178	280	7.17e-30	SMART
Kelch	328	375	4.01e-8	SMART
Kelch	376	422	2.52e-14	SMART
Kelch	423	469	3.23e-12	SMART
Kelch	470	516	1.03e-10	SMART
Kelch	517	563	1.66e-14	SMART
Kelch	564	610	6.12e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112811
AA Change: V328I

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: V328I

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
Kelch	145	192	4.01e-8	SMART
Kelch	193	239	2.52e-14	SMART
Kelch	240	286	3.23e-12	SMART
Kelch	287	333	1.03e-10	SMART
Kelch	334	380	1.66e-14	SMART
Kelch	381	427	6.12e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112815
AA Change: V435I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: V435I

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
BACK	102	204	7.17e-30	SMART
Kelch	252	299	4.01e-8	SMART
Kelch	300	346	2.52e-14	SMART
Kelch	347	393	3.23e-12	SMART
Kelch	394	440	1.03e-10	SMART
Kelch	441	487	1.66e-14	SMART
Kelch	488	534	6.12e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131843

SMART Domains

Protein: ENSMUSP00000117671
Gene: ENSMUSG00000029312

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.1%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,079,456 (GRCm39)	R1233G	probably null	Het
Acacb	A	T	5: 114,333,297 (GRCm39)	I474F	possibly damaging	Het
Adora1	A	T	1: 134,131,062 (GRCm39)	V203D	probably damaging	Het
Aff4	A	G	11: 53,290,998 (GRCm39)	S653G	probably benign	Het
Agtr1a	T	C	13: 30,565,082 (GRCm39)	V49A	probably damaging	Het
Ahnak	T	C	19: 8,984,659 (GRCm39)	V1981A	probably benign	Het
Arhgap5	T	G	12: 52,565,098 (GRCm39)	Y690D	probably benign	Het
Bbs9	A	G	9: 22,590,214 (GRCm39)	I651V	probably benign	Het
Brms1	C	T	19: 5,096,007 (GRCm39)	A27V	probably benign	Het
Camta1	A	G	4: 151,168,282 (GRCm39)	V256A	probably benign	Het
Capg	G	T	6: 72,533,236 (GRCm39)		probably null	Het
Chpt1	T	C	10: 88,288,953 (GRCm39)	K154E		Het
Cyp1b1	T	C	17: 80,021,223 (GRCm39)	E173G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw27	T	G	9: 109,602,283 (GRCm39)	N230T	possibly damaging	Het
Fer1l4	T	C	2: 155,891,585 (GRCm39)	T126A	probably benign	Het
Fut10	C	A	8: 31,750,034 (GRCm39)	S440*	probably null	Het
Gbf1	T	C	19: 46,234,576 (GRCm39)	V71A	probably damaging	Het
Gpatch8	T	C	11: 102,378,347 (GRCm39)	E201G	unknown	Het
Hic2	A	G	16: 17,076,950 (GRCm39)	Y593C	probably damaging	Het
Hlcs	A	T	16: 94,068,677 (GRCm39)	V181E	probably damaging	Het
Itpr2	A	T	6: 146,320,013 (GRCm39)	I176N	possibly damaging	Het
Kcna2	G	T	3: 107,012,338 (GRCm39)	K306N	probably damaging	Het
Kcnb1	A	G	2: 166,948,117 (GRCm39)	Y244H	probably damaging	Het
Mapk14	T	A	17: 28,934,374 (GRCm39)	D88E	possibly damaging	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mrpl1	T	A	5: 96,386,733 (GRCm39)	L241I	probably damaging	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Nfkb2	T	A	19: 46,296,054 (GRCm39)	D186E	probably benign	Het
Or3a1b	G	A	11: 74,013,035 (GRCm39)	V307I	probably benign	Het
Plcl1	A	G	1: 55,734,976 (GRCm39)	I106V	probably benign	Het
Ppp4r2	A	G	6: 100,842,044 (GRCm39)	I168M	probably damaging	Het
Prpf4b	A	T	13: 35,079,974 (GRCm39)	K779N	probably damaging	Het
Qrich1	T	C	9: 108,433,760 (GRCm39)		probably null	Het
Rgs12	T	C	5: 35,123,117 (GRCm39)	F300S	probably damaging	Het
Sart3	T	A	5: 113,884,029 (GRCm39)	K661M	probably benign	Het
Scyl2	T	C	10: 89,489,971 (GRCm39)	I464V	possibly damaging	Het
Sema5a	A	G	15: 32,575,064 (GRCm39)	T391A	probably benign	Het
Sh3bgr	A	G	16: 96,025,070 (GRCm39)	T183A	unknown	Het
Sh3rf3	C	T	10: 58,940,242 (GRCm39)	P688S	probably benign	Het
Themis3	T	C	17: 66,866,962 (GRCm39)	T93A	probably benign	Het
Thsd7b	T	A	1: 130,117,688 (GRCm39)	S1402T	probably damaging	Het
Ubr1	A	T	2: 120,793,937 (GRCm39)	D82E	possibly damaging	Het
Vmn1r223	T	C	13: 23,433,982 (GRCm39)	F192S	probably benign	Het
Vmn2r98	A	G	17: 19,301,031 (GRCm39)	K678E	probably damaging	Het
Vps13d	G	T	4: 144,875,047 (GRCm39)	T1826N		Het
Vps41	A	G	13: 19,033,168 (GRCm39)	D633G	possibly damaging	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het

Other mutations in Klhl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Klhl8	UTSW	5	104,015,804 (GRCm39)	missense	probably benign	0.45
R0718:Klhl8	UTSW	5	104,024,159 (GRCm39)	intron	probably benign
R1374:Klhl8	UTSW	5	104,011,049 (GRCm39)	missense	probably damaging	1.00
R1662:Klhl8	UTSW	5	104,019,911 (GRCm39)	missense	probably damaging	0.96
R4440:Klhl8	UTSW	5	104,015,433 (GRCm39)	missense	probably benign	0.00
R6406:Klhl8	UTSW	5	104,010,981 (GRCm39)	missense	possibly damaging	0.87
R6961:Klhl8	UTSW	5	104,018,435 (GRCm39)	missense	possibly damaging	0.92
R7807:Klhl8	UTSW	5	104,023,932 (GRCm39)	missense	probably damaging	1.00
R7863:Klhl8	UTSW	5	104,019,968 (GRCm39)	missense	probably benign
R8217:Klhl8	UTSW	5	104,015,466 (GRCm39)	missense	possibly damaging	0.51
R8240:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
R8278:Klhl8	UTSW	5	104,022,107 (GRCm39)	missense	probably benign	0.00
R8297:Klhl8	UTSW	5	104,010,954 (GRCm39)	missense	probably benign	0.23
R8504:Klhl8	UTSW	5	104,015,814 (GRCm39)	missense	probably benign	0.30
R8539:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
R8991:Klhl8	UTSW	5	104,018,404 (GRCm39)	missense	probably benign	0.03
R9051:Klhl8	UTSW	5	104,015,709 (GRCm39)	critical splice donor site	probably null
R9176:Klhl8	UTSW	5	104,012,111 (GRCm39)	missense	probably benign	0.00
R9183:Klhl8	UTSW	5	104,012,111 (GRCm39)	missense	probably benign	0.00
Z1177:Klhl8	UTSW	5	104,033,905 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACTGGTTTTCTTGAAGCAC -3'
(R):5'- AGAAATCCATCTGAAATCTGTCGC -3'

Sequencing Primer
(F):5'- TTTGAGACAGGGTCACACTATGC -3'
(R):5'- ATCTGAAATCTGTCGCATGCTTTG -3'

Posted On

2020-07-13