Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02152:Klhl5'

282064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl5

Ensembl Gene

ENSMUSG00000054920

Gene Name

kelch-like 5

Synonyms

1300013C10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02152

Quality Score

Status

Chromosome

Chromosomal Location

65264894-65325490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65306143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 370 (Q370L)

Ref Sequence

ENSEMBL: ENSMUSP00000098752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101191] [ENSMUST00000204097] [ENSMUST00000204348]

AlphaFold

Q6PFE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000101191
AA Change: Q370L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: Q370L

Domain	Start	End	E-Value	Type
low complexity region	114	137	N/A	INTRINSIC
BTB	173	270	1.5e-28	SMART
BACK	275	376	7.85e-36	SMART
Kelch	421	467	1.12e-11	SMART
Kelch	468	514	3.2e-16	SMART
Kelch	515	561	1.51e-12	SMART
Kelch	562	608	4.6e-17	SMART
Kelch	609	661	2.84e-8	SMART
Kelch	662	708	1.83e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203561

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204097
AA Change: Q230L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: Q230L

Domain	Start	End	E-Value	Type
BTB	33	130	1.5e-28	SMART
BACK	135	236	7.85e-36	SMART
Kelch	281	327	1.12e-11	SMART
Kelch	328	374	3.2e-16	SMART
Kelch	375	421	1.51e-12	SMART
Kelch	422	468	4.6e-17	SMART
Kelch	469	521	2.84e-8	SMART
Kelch	522	568	1.83e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000204348
AA Change: Q309L

SMART Domains

Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: Q309L

Domain	Start	End	E-Value	Type
BTB	111	209	1.32e-15	SMART
BACK	214	315	7.85e-36	SMART
Kelch	360	406	1.12e-11	SMART
Kelch	407	453	3.2e-16	SMART
Kelch	454	500	1.51e-12	SMART
Kelch	501	547	4.6e-17	SMART
Kelch	548	600	2.84e-8	SMART
Kelch	601	647	1.83e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,695,983 (GRCm39)	T140A	probably benign	Het
4933430I17Rik	T	C	4: 62,460,991 (GRCm39)	Y289H	possibly damaging	Het
Adamts17	T	A	7: 66,774,748 (GRCm39)	S956T	probably benign	Het
Adamts6	A	T	13: 104,450,168 (GRCm39)	S290C	probably null	Het
Apaf1	A	T	10: 90,897,681 (GRCm39)	H267Q	probably benign	Het
Aplp2	G	A	9: 31,122,947 (GRCm39)	P26L	unknown	Het
Arid1b	C	T	17: 5,364,243 (GRCm39)	S1019F	probably damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Ass1	T	C	2: 31,382,336 (GRCm39)	I169T	probably damaging	Het
Ccser1	A	G	6: 61,288,692 (GRCm39)	D285G	possibly damaging	Het
Cenpf	A	G	1: 189,381,209 (GRCm39)	V2737A	probably benign	Het
Chrm5	A	G	2: 112,310,913 (GRCm39)	Y68H	probably damaging	Het
Cops4	A	G	5: 100,681,456 (GRCm39)	T164A	probably benign	Het
Cox4i1	A	G	8: 121,399,604 (GRCm39)	S72G	probably benign	Het
Cpox	A	G	16: 58,494,787 (GRCm39)	T275A	possibly damaging	Het
Cyb5a	T	C	18: 84,891,281 (GRCm39)	I68T	probably benign	Het
Efna5	T	C	17: 62,958,055 (GRCm39)	D67G	probably benign	Het
Enpp3	T	C	10: 24,649,900 (GRCm39)	E842G	probably damaging	Het
Fam210b	A	G	2: 172,193,423 (GRCm39)	K79E	probably benign	Het
Gm4799	T	C	10: 82,790,589 (GRCm39)		noncoding transcript	Het
Gpr146	A	T	5: 139,378,467 (GRCm39)	R90W	probably damaging	Het
H2ac10	A	G	13: 23,718,451 (GRCm39)	H124R	probably benign	Het
Hal	A	G	10: 93,339,404 (GRCm39)	I498V	possibly damaging	Het
Hnrnpm	C	T	17: 33,877,386 (GRCm39)	G365R	probably damaging	Het
Jakmip3	A	G	7: 138,627,217 (GRCm39)	D407G	probably damaging	Het
Kank1	A	G	19: 25,405,536 (GRCm39)	I1185V	possibly damaging	Het
Kcnj16	A	T	11: 110,916,036 (GRCm39)	M233L	probably benign	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Las1l	A	G	X: 94,996,908 (GRCm39)	V130A	probably damaging	Het
Liat1	A	G	11: 75,894,051 (GRCm39)	I143V	probably benign	Het
Lrp2bp	A	T	8: 46,476,081 (GRCm39)	Y274F	probably damaging	Het
Morc2b	T	A	17: 33,356,917 (GRCm39)	K285M	probably damaging	Het
Mpp3	A	T	11: 101,916,216 (GRCm39)	Y45*	probably null	Het
Muc4	T	A	16: 32,598,023 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,353,914 (GRCm39)	C837R	possibly damaging	Het
Nr2f6	T	A	8: 71,828,810 (GRCm39)	I155F	probably damaging	Het
Nsg1	A	G	5: 38,302,145 (GRCm39)	F50L	probably benign	Het
Or14a258	T	A	7: 86,035,251 (GRCm39)	M206L	probably benign	Het
Ostf1	C	A	19: 18,567,822 (GRCm39)	G101C	probably damaging	Het
Pam	C	T	1: 97,768,474 (GRCm39)	R552Q	probably damaging	Het
Pkd1l3	A	G	8: 110,395,924 (GRCm39)	N2108S	probably damaging	Het
Prkdc	A	T	16: 15,487,149 (GRCm39)	H484L	probably benign	Het
Pwwp3a	A	G	10: 80,075,812 (GRCm39)	D466G	probably damaging	Het
Rfx5	G	A	3: 94,864,493 (GRCm39)	R213Q	probably damaging	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Sall2	A	G	14: 52,552,971 (GRCm39)	S73P	probably damaging	Het
Sec22c	G	A	9: 121,513,845 (GRCm39)	A264V	probably benign	Het
Sis	A	C	3: 72,796,319 (GRCm39)		probably benign	Het
Spam1	T	A	6: 24,800,802 (GRCm39)		probably benign	Het
Spmip2	T	C	3: 79,252,839 (GRCm39)	I18T	possibly damaging	Het
St13	T	A	15: 81,250,583 (GRCm39)	I318F	probably damaging	Het
Syne1	T	C	10: 5,374,382 (GRCm39)	I142V	probably damaging	Het
Tasor2	C	T	13: 3,635,371 (GRCm39)	E479K	probably benign	Het
Trpm6	A	T	19: 18,809,903 (GRCm39)	T1100S	possibly damaging	Het
Ttll6	G	A	11: 96,026,366 (GRCm39)	W90*	probably null	Het
Txndc12	T	A	4: 108,691,989 (GRCm39)	C9*	probably null	Het
Ubr7	C	T	12: 102,734,535 (GRCm39)	Q270*	probably null	Het
Vps33b	A	G	7: 79,934,817 (GRCm39)	S302G	probably benign	Het
Xylt1	T	A	7: 117,233,997 (GRCm39)	V508E	probably damaging	Het
Zbtb26	A	T	2: 37,326,703 (GRCm39)	L111Q	possibly damaging	Het
Zfp410	T	C	12: 84,379,702 (GRCm39)		probably benign	Het
Zscan18	A	T	7: 12,509,223 (GRCm39)		probably benign	Het

Other mutations in Klhl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02700:Klhl5	APN	5	65,288,773 (GRCm39)	nonsense	probably null
R0064:Klhl5	UTSW	5	65,298,631 (GRCm39)	missense	probably benign	0.13
R0142:Klhl5	UTSW	5	65,300,693 (GRCm39)	nonsense	probably null
R0783:Klhl5	UTSW	5	65,313,596 (GRCm39)	splice site	probably benign
R0828:Klhl5	UTSW	5	65,320,135 (GRCm39)	missense	probably damaging	1.00
R1160:Klhl5	UTSW	5	65,298,683 (GRCm39)	missense	probably benign	0.13
R1181:Klhl5	UTSW	5	65,320,228 (GRCm39)	missense	probably damaging	0.99
R1611:Klhl5	UTSW	5	65,321,992 (GRCm39)	missense	probably benign	0.00
R1903:Klhl5	UTSW	5	65,324,330 (GRCm39)	missense	probably benign	0.37
R4880:Klhl5	UTSW	5	65,316,244 (GRCm39)	missense	probably damaging	1.00
R4961:Klhl5	UTSW	5	65,310,033 (GRCm39)	intron	probably benign
R5204:Klhl5	UTSW	5	65,288,781 (GRCm39)	missense	possibly damaging	0.95
R5389:Klhl5	UTSW	5	65,298,625 (GRCm39)	missense	possibly damaging	0.76
R5921:Klhl5	UTSW	5	65,320,299 (GRCm39)	missense	probably damaging	0.96
R6769:Klhl5	UTSW	5	65,321,995 (GRCm39)	missense	probably damaging	1.00
R6771:Klhl5	UTSW	5	65,321,995 (GRCm39)	missense	probably damaging	1.00
R7008:Klhl5	UTSW	5	65,300,592 (GRCm39)	missense	probably benign	0.02
R7214:Klhl5	UTSW	5	65,289,098 (GRCm39)	missense	probably benign
R7227:Klhl5	UTSW	5	65,298,631 (GRCm39)	missense	probably benign	0.00
R7239:Klhl5	UTSW	5	65,318,529 (GRCm39)	missense	probably damaging	1.00
R7400:Klhl5	UTSW	5	65,305,933 (GRCm39)	missense	possibly damaging	0.81
R7796:Klhl5	UTSW	5	65,321,965 (GRCm39)	missense	probably damaging	1.00
R8081:Klhl5	UTSW	5	65,320,268 (GRCm39)	missense	possibly damaging	0.94
R8108:Klhl5	UTSW	5	65,305,930 (GRCm39)	critical splice acceptor site	probably null
R8185:Klhl5	UTSW	5	65,313,471 (GRCm39)	missense	probably damaging	0.99
R8424:Klhl5	UTSW	5	65,320,305 (GRCm39)	missense	probably benign	0.10
R8691:Klhl5	UTSW	5	65,306,881 (GRCm39)	intron	probably benign
R8818:Klhl5	UTSW	5	65,305,989 (GRCm39)	missense	probably benign	0.23
R9233:Klhl5	UTSW	5	65,300,673 (GRCm39)	missense	possibly damaging	0.95
R9456:Klhl5	UTSW	5	65,305,939 (GRCm39)	missense	probably damaging	1.00
R9528:Klhl5	UTSW	5	65,313,586 (GRCm39)	critical splice donor site	probably null
R9688:Klhl5	UTSW	5	65,321,930 (GRCm39)	missense	probably damaging	1.00
R9744:Klhl5	UTSW	5	65,320,255 (GRCm39)	missense	probably damaging	1.00
X0009:Klhl5	UTSW	5	65,320,264 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16