Mutagenetix > Incidental Mutation

Incidental Mutation 'R5188:Katnbl1'

398005

Institutional Source

Beutler Lab

Gene Symbol

Katnbl1

Ensembl Gene

ENSMUSG00000027132

Gene Name

katanin p80 subunit B like 1

Synonyms

2410042D21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.759) question?

Stock #

R5188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112209556-112244582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112240499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 262 (I262N)

Ref Sequence

ENSEMBL: ENSMUSP00000028552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028552] [ENSMUST00000141047]

AlphaFold

Q9CWJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028552
AA Change: I262N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028552
Gene: ENSMUSG00000027132
AA Change: I262N

Domain	Start	End	E-Value	Type
Pfam:Katanin_con80	144	295	1.1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141047

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	8e-3	SMART
Pfam:AA_permease	175	369	6.6e-25	PFAM
Pfam:AA_permease	438	746	3.6e-43	PFAM
Pfam:SLC12	758	884	6.8e-20	PFAM
Pfam:SLC12	877	1033	5.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151257

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca12	T	A	1: 71,330,651 (GRCm39)	I1335F	probably benign	Het
Amigo3	C	A	9: 107,931,882 (GRCm39)	A435E	probably damaging	Het
Atr	T	A	9: 95,803,778 (GRCm39)	N1871K	probably benign	Het
Ctsw	C	T	19: 5,517,120 (GRCm39)	A71T	probably damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Golgb1	A	G	16: 36,738,827 (GRCm39)	T2389A	probably benign	Het
Gpr151	A	G	18: 42,711,820 (GRCm39)	M286T	probably benign	Het
Lrp1	A	G	10: 127,443,821 (GRCm39)	C149R	probably damaging	Het
Mpc1	A	T	17: 8,515,215 (GRCm39)		probably benign	Het
Ndufv1	A	T	19: 4,059,988 (GRCm39)	N37K	probably damaging	Het
Or1n1b	T	A	2: 36,780,405 (GRCm39)	I152L	probably benign	Het
Or5af2	C	A	11: 58,708,146 (GRCm39)	T104K	probably damaging	Het
Or8g50	T	C	9: 39,648,531 (GRCm39)	V140A	probably benign	Het
Or8k1	T	G	2: 86,047,521 (GRCm39)	S178R	probably benign	Het
Pnpla7	C	A	2: 24,887,312 (GRCm39)	P52Q	probably benign	Het
Prh1	A	G	6: 132,548,670 (GRCm39)	Q59R	unknown	Het
Ren1	A	G	1: 133,278,351 (GRCm39)		probably benign	Het
Rnf148	T	C	6: 23,654,139 (GRCm39)	T286A	probably damaging	Het
Sdk1	T	C	5: 141,942,015 (GRCm39)		probably null	Het
Srp72	T	A	5: 77,122,598 (GRCm39)	S10T	possibly damaging	Het
Stk11	G	T	10: 79,962,113 (GRCm39)	G215V	probably damaging	Het
Stk4	T	C	2: 163,930,828 (GRCm39)	M143T	possibly damaging	Het
Supt20	T	A	3: 54,617,849 (GRCm39)	S318T	possibly damaging	Het
Tchh	G	C	3: 93,353,986 (GRCm39)	R1142P	unknown	Het
Vipas39	G	T	12: 87,301,021 (GRCm39)	R161S	probably benign	Het

Other mutations in Katnbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03155:Katnbl1	APN	2	112,239,577 (GRCm39)	critical splice donor site	probably null
R0053:Katnbl1	UTSW	2	112,234,586 (GRCm39)	missense	probably benign	0.29
R0053:Katnbl1	UTSW	2	112,234,586 (GRCm39)	missense	probably benign	0.29
R1676:Katnbl1	UTSW	2	112,236,454 (GRCm39)	missense	probably damaging	1.00
R1917:Katnbl1	UTSW	2	112,239,524 (GRCm39)	missense	probably benign	0.36
R2990:Katnbl1	UTSW	2	112,234,585 (GRCm39)	missense	probably damaging	1.00
R2993:Katnbl1	UTSW	2	112,238,963 (GRCm39)	splice site	probably null
R7613:Katnbl1	UTSW	2	112,239,538 (GRCm39)	missense	probably benign	0.01
R9652:Katnbl1	UTSW	2	112,239,497 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAAGAAAGTTGTCCACTTG -3'
(R):5'- ATCCCAACTAGCAATGTGCC -3'

Sequencing Primer
(F):5'- AAGTTGTCCACTTGCTACAAATGCC -3'
(R):5'- GTGCCTTTTTCCTGTAAGAGATAAGC -3'

Posted On

2016-07-06