Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:Klhl35'

407458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl35

Ensembl Gene

ENSMUSG00000035298

Gene Name

kelch-like 35

Synonyms

2810406K13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

99115211-99123229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99119550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 345 (V345D)

Ref Sequence

ENSEMBL: ENSMUSP00000041363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037359] [ENSMUST00000152424]

AlphaFold

Q9CZ49

Predicted Effect

probably damaging
Transcript: ENSMUST00000037359
AA Change: V345D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041363
Gene: ENSMUSG00000035298
AA Change: V345D

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
BTB	40	141	5.82e-17	SMART
BACK	146	248	1.21e-27	SMART
Kelch	292	341	6.32e-2	SMART
Kelch	342	385	1.18e-5	SMART
Kelch	386	432	3.01e-12	SMART
Kelch	433	480	2.23e-1	SMART
Kelch	481	522	2.71e-5	SMART
Kelch	523	570	1.39e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142339

Predicted Effect

probably benign
Transcript: ENSMUST00000152424

SMART Domains

Protein: ENSMUSP00000120346
Gene: ENSMUSG00000035298

Domain	Start	End	E-Value	Type
Pfam:Kelch_1	1	34	1.1e-8	PFAM
Pfam:Kelch_6	36	79	3.6e-8	PFAM
Pfam:Kelch_1	38	76	2.6e-7	PFAM
low complexity region	106	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153736

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,671,509 (GRCm39)	P577L	probably damaging	Het
Aff3	A	T	1: 38,248,651 (GRCm39)	S819T	probably damaging	Het
Aftph	G	T	11: 20,676,982 (GRCm39)	S209*	probably null	Het
Astn1	T	A	1: 158,439,965 (GRCm39)	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,828,608 (GRCm39)	K29E	probably benign	Het
Ccdc93	T	C	1: 121,390,846 (GRCm39)	S273P	possibly damaging	Het
Cd200r3	C	A	16: 44,764,139 (GRCm39)	H2N	probably benign	Het
Cd200r3	G	T	16: 44,764,138 (GRCm39)	M1I	probably null	Het
Col7a1	G	A	9: 108,804,024 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,642,640 (GRCm39)	M240L	probably benign	Het
Dcstamp	T	C	15: 39,617,906 (GRCm39)	V105A	possibly damaging	Het
Dmbt1	C	A	7: 130,684,409 (GRCm39)	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,469,876 (GRCm39)	M634K	probably benign	Het
Farp2	T	C	1: 93,495,140 (GRCm39)	Y138H	probably damaging	Het
Fga	T	C	3: 82,940,037 (GRCm39)	S564P	probably damaging	Het
Gbf1	T	C	19: 46,244,094 (GRCm39)	L142S	probably damaging	Het
Gm5422	T	C	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Helz2	A	G	2: 180,882,046 (GRCm39)	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,323,498 (GRCm39)	T4204K	probably damaging	Het
Ift81	T	C	5: 122,732,725 (GRCm39)	I270V	probably benign	Het
Katnip	A	T	7: 125,451,132 (GRCm39)	I1088F	probably damaging	Het
Kif6	C	T	17: 50,060,899 (GRCm39)	R411*	probably null	Het
Mcm3ap	C	A	10: 76,340,531 (GRCm39)	D1531E	probably benign	Het
Muc5b	C	A	7: 141,417,351 (GRCm39)	D3432E	probably benign	Het
Nipbl	A	T	15: 8,379,798 (GRCm39)	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,782,726 (GRCm39)	V228L	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,424,910 (GRCm39)	A210V	possibly damaging	Het
Or13a18	A	G	7: 140,190,283 (GRCm39)	Y60C	probably damaging	Het
Or1l4b	T	C	2: 37,036,464 (GRCm39)	V80A	probably benign	Het
Osbpl7	T	C	11: 96,941,521 (GRCm39)	Y15H	probably benign	Het
Pde8b	T	A	13: 95,178,465 (GRCm39)	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,892,123 (GRCm39)	S280T	probably benign	Het
Pkd1	T	A	17: 24,812,577 (GRCm39)		probably null	Het
Polh	A	T	17: 46,505,292 (GRCm39)	V108E	possibly damaging	Het
Prob1	A	G	18: 35,786,428 (GRCm39)	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,582 (GRCm39)	N1557K	probably damaging	Het
Rev1	A	C	1: 38,127,154 (GRCm39)	F369V	possibly damaging	Het
Rgma	A	G	7: 73,067,188 (GRCm39)	N148D	probably damaging	Het
Robo3	A	G	9: 37,330,587 (GRCm39)	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Sema6c	T	C	3: 95,076,925 (GRCm39)	L337P	probably damaging	Het
Shc4	A	T	2: 125,565,253 (GRCm39)	Y15*	probably null	Het
Slc4a9	T	C	18: 36,669,946 (GRCm39)	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,035,168 (GRCm39)	N864D	probably damaging	Het
Sspo	T	C	6: 48,432,021 (GRCm39)	L745P	probably damaging	Het
Syce1l	A	G	8: 114,380,699 (GRCm39)	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,473,781 (GRCm39)	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,711,887 (GRCm39)	D7G	probably benign	Het
Tmem109	A	C	19: 10,851,695 (GRCm39)	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,350,834 (GRCm39)	R333G	probably damaging	Het
Ttn	T	G	2: 76,611,955 (GRCm39)	S17316R	probably damaging	Het
Usp10	A	G	8: 120,681,549 (GRCm39)	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,345,906 (GRCm39)	F2716I	possibly damaging	Het

Other mutations in Klhl35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Klhl35	APN	7	99,120,888 (GRCm39)	splice site	probably benign
R0268:Klhl35	UTSW	7	99,120,958 (GRCm39)	missense	probably benign	0.33
R1563:Klhl35	UTSW	7	99,120,902 (GRCm39)	missense	probably damaging	1.00
R1770:Klhl35	UTSW	7	99,123,082 (GRCm39)	missense	possibly damaging	0.57
R1901:Klhl35	UTSW	7	99,119,427 (GRCm39)	missense	probably damaging	1.00
R2392:Klhl35	UTSW	7	99,123,031 (GRCm39)	missense	possibly damaging	0.72
R3810:Klhl35	UTSW	7	99,119,448 (GRCm39)	missense	probably benign	0.07
R4194:Klhl35	UTSW	7	99,123,058 (GRCm39)	splice site	probably null
R4349:Klhl35	UTSW	7	99,122,926 (GRCm39)	missense	probably benign	0.18
R4960:Klhl35	UTSW	7	99,118,275 (GRCm39)	missense	probably damaging	1.00
R5846:Klhl35	UTSW	7	99,122,094 (GRCm39)	missense	probably damaging	0.97
R6161:Klhl35	UTSW	7	99,122,544 (GRCm39)	unclassified	probably benign
R6494:Klhl35	UTSW	7	99,122,106 (GRCm39)	missense	probably damaging	1.00
R7060:Klhl35	UTSW	7	99,117,665 (GRCm39)	missense	possibly damaging	0.81
R7758:Klhl35	UTSW	7	99,122,425 (GRCm39)	missense	unknown
R7762:Klhl35	UTSW	7	99,117,647 (GRCm39)	missense	probably benign	0.11
R8022:Klhl35	UTSW	7	99,122,446 (GRCm39)	missense	unknown
R8348:Klhl35	UTSW	7	99,121,062 (GRCm39)	missense	probably damaging	0.99
R8356:Klhl35	UTSW	7	99,122,129 (GRCm39)	missense	probably damaging	1.00
R8822:Klhl35	UTSW	7	99,122,055 (GRCm39)	missense	probably benign	0.00
R8927:Klhl35	UTSW	7	99,120,221 (GRCm39)	missense	probably damaging	1.00
R8928:Klhl35	UTSW	7	99,120,221 (GRCm39)	missense	probably damaging	1.00
R9072:Klhl35	UTSW	7	99,122,129 (GRCm39)	missense	probably damaging	1.00
R9202:Klhl35	UTSW	7	99,120,212 (GRCm39)	missense	probably benign	0.29
R9434:Klhl35	UTSW	7	99,119,547 (GRCm39)	missense	probably damaging	1.00
R9671:Klhl35	UTSW	7	99,117,702 (GRCm39)	missense	probably benign	0.13
X0023:Klhl35	UTSW	7	99,119,548 (GRCm39)	nonsense	probably null
X0064:Klhl35	UTSW	7	99,121,048 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02