Mutagenetix > Incidental Mutation

Incidental Mutation 'R7758:Klhl35'

597674

Institutional Source

Beutler Lab

Gene Symbol

Klhl35

Ensembl Gene

ENSMUSG00000035298

Gene Name

kelch-like 35

Synonyms

2810406K13Rik

MMRRC Submission

045814-MU

Accession Numbers

Essential gene?

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

Stock #

R7758 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99115211-99123229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99122425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 87 (T87I)

Ref Sequence

ENSEMBL: ENSMUSP00000120346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032998] [ENSMUST00000037359] [ENSMUST00000107096] [ENSMUST00000152424]

AlphaFold

Q9CZ49

Predicted Effect

probably benign
Transcript: ENSMUST00000032998

SMART Domains

Protein: ENSMUSP00000032998
Gene: ENSMUSG00000030744

Domain	Start	End	E-Value	Type
KH	42	111	2.83e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037359

SMART Domains

Protein: ENSMUSP00000041363
Gene: ENSMUSG00000035298

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

probably benign
Transcript: ENSMUST00000107096

SMART Domains

Protein: ENSMUSP00000102713
Gene: ENSMUSG00000030744

Domain	Start	End	E-Value	Type
KH	42	111	2.83e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000152424
AA Change: T87I

SMART Domains

Protein: ENSMUSP00000120346
Gene: ENSMUSG00000035298
AA Change: T87I

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,816 (GRCm39)	D1124G	probably damaging	Het
Actr10	A	G	12: 70,989,100 (GRCm39)	H73R	probably damaging	Het
Ak9	G	T	10: 41,223,128 (GRCm39)	A424S		Het
Alkbh5	G	A	11: 60,429,903 (GRCm39)	V219M	probably damaging	Het
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bfar	T	C	16: 13,519,985 (GRCm39)	F406S	possibly damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Colec11	A	C	12: 28,645,241 (GRCm39)		probably null	Het
Crh	T	A	3: 19,748,453 (GRCm39)	Y63F	probably damaging	Het
Dmbt1	C	T	7: 130,722,926 (GRCm39)	H1946Y	unknown	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm17019	A	G	5: 15,079,300 (GRCm39)	*256Q	probably null	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
H3c13	A	G	3: 96,176,203 (GRCm39)	K65R	possibly damaging	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Kmt2e	A	G	5: 23,701,068 (GRCm39)	T761A	possibly damaging	Het
Lca5l	C	T	16: 95,980,037 (GRCm39)	R36H	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or4c120	T	A	2: 89,001,485 (GRCm39)	I24L	probably benign	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Prss43	G	A	9: 110,658,459 (GRCm39)	G253E	possibly damaging	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Slc22a15	A	G	3: 101,805,251 (GRCm39)		probably null	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Sphk1	A	G	11: 116,427,063 (GRCm39)	R340G	possibly damaging	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Taok3	A	G	5: 117,388,972 (GRCm39)	E459G	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGCCAG	AGCCAGCGCCAG	4: 43,177,344 (GRCm39)		probably benign	Het
Vmn1r201	A	G	13: 22,658,989 (GRCm39)	T68A	not run	Het
Wdr59	T	A	8: 112,207,117 (GRCm39)	I534F		Het
Ylpm1	A	G	12: 85,061,796 (GRCm39)	I566V	unknown	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zcchc14	T	C	8: 122,331,428 (GRCm39)	K645R	unknown	Het
Zfp704	C	T	3: 9,509,282 (GRCm39)	V388M	possibly damaging	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	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
IGL03003:Klhl35	APN	7	99,119,550 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGTCTTGCATGATCCCAC -3'
(R):5'- AAGTTGGAAGCCTCAGCCTTG -3'

Sequencing Primer
(F):5'- GCATGATCCCACTGTAAATGG -3'
(R):5'- TTGAGTCATCCAGGACCCAAATGG -3'

Posted On

2019-11-26