Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Klhl8'

638060

Institutional Source

Beutler Lab

Gene Symbol

Klhl8

Ensembl Gene

ENSMUSG00000029312

Gene Name

kelch-like 8

Synonyms

D5Ertd431e, 2310001P09Rik

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104009916-104059137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104022107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 314 (E314G)

Ref Sequence

ENSEMBL: ENSMUSP00000031254 (fasta)

Gene Model

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

AlphaFold

P59280

Predicted Effect

probably benign
Transcript: ENSMUST00000031254
AA Change: E314G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: E314G

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

probably benign
Transcript: ENSMUST00000112811
AA Change: E131G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: E131G

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

possibly damaging
Transcript: ENSMUST00000112815
AA Change: E238G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: E238G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly 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
R8241:Klhl8	UTSW	5	104,015,392 (GRCm39)	missense	probably damaging	0.97
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'- CAGTCTTTCTCACGGCAAACC -3'
(R):5'- TCTCACAACTGTCCGTGGTC -3'

Sequencing Primer
(F):5'- CTGCTTAGGAGAACATCTTCAGAG -3'
(R):5'- CACAACTGTCCGTGGTCTTAGG -3'

Posted On

2020-07-28