Mutagenetix > Incidental Mutation

Incidental Mutation 'R9243:Krtap16-1'

701106

Institutional Source

Beutler Lab

Gene Symbol

Krtap16-1

Ensembl Gene

ENSMUSG00000078253

Gene Name

keratin associated protein 16-1

Synonyms

AI450886

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99875536-99877423 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 99876644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 253 (C253*)

Ref Sequence

ENSEMBL: ENSMUSP00000100671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105050]

AlphaFold

A2A5X5

Predicted Effect

probably null
Transcript: ENSMUST00000105050
AA Change: C253*

SMART Domains

Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: C253*

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	45	92	3.4e-8	PFAM
Pfam:Keratin_B2_2	88	132	1.8e-11	PFAM
Pfam:Keratin_B2_2	142	191	1.6e-7	PFAM
Pfam:Keratin_B2_2	172	221	9.9e-9	PFAM
Pfam:Keratin_B2_2	198	246	8.2e-5	PFAM
Pfam:Keratin_B2_2	212	266	3.3e-4	PFAM
low complexity region	282	299	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	489	500	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,188,035 (GRCm39)	S1816R	probably benign	Het
Appl1	A	T	14: 26,649,710 (GRCm39)	F605L	possibly damaging	Het
Cacna1g	T	A	11: 94,347,893 (GRCm39)	I732F	possibly damaging	Het
Capg	T	A	6: 72,538,070 (GRCm39)	S319T	probably benign	Het
Cdh17	T	A	4: 11,771,333 (GRCm39)	F38L	probably benign	Het
Cep295	T	A	9: 15,243,605 (GRCm39)	N1617I	probably benign	Het
Cep57	C	T	9: 13,738,204 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,195,265 (GRCm39)		probably benign	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
Dock7	A	G	4: 98,857,871 (GRCm39)	V1481A	unknown	Het
Exoc2	T	C	13: 31,109,778 (GRCm39)	K197E	probably benign	Het
Fancg	C	T	4: 43,006,565 (GRCm39)	V330I	possibly damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gad2	A	G	2: 22,525,053 (GRCm39)	E279G	possibly damaging	Het
Gria1	A	G	11: 57,128,888 (GRCm39)	Y454C	probably benign	Het
Grik3	C	T	4: 125,601,690 (GRCm39)	R856C	probably benign	Het
Hdac4	C	A	1: 91,900,511 (GRCm39)	R622I	probably damaging	Het
Hdac4	T	C	1: 91,900,512 (GRCm39)	R622G	probably benign	Het
Htt	T	C	5: 35,056,276 (GRCm39)		probably benign	Het
Idh1	A	G	1: 65,207,656 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,861,775 (GRCm39)	S1112G	probably benign	Het
Impg2	A	T	16: 56,051,823 (GRCm39)	S242C	probably damaging	Het
Itgb1	T	A	8: 129,433,587 (GRCm39)	S34T	probably benign	Het
Kcnh8	A	G	17: 53,205,542 (GRCm39)	I546V	probably damaging	Het
Klrd1	T	G	6: 129,568,795 (GRCm39)	M1R	probably null	Het
Mapk7	A	G	11: 61,384,535 (GRCm39)	I57T	possibly damaging	Het
Msrb2	A	G	2: 19,388,073 (GRCm39)	N74D	probably benign	Het
Myd88	A	T	9: 119,168,773 (GRCm39)	S85T	probably benign	Het
Myo1c	G	T	11: 75,541,437 (GRCm39)		probably benign	Het
Nnt	T	A	13: 119,494,060 (GRCm39)	N674Y	unknown	Het
Nrcam	A	G	12: 44,620,607 (GRCm39)	Y878C	probably damaging	Het
Obscn	T	C	11: 59,023,392 (GRCm39)	T662A	probably benign	Het
Or14j4	T	C	17: 37,921,408 (GRCm39)	Q78R	probably benign	Het
Or4l15	A	G	14: 50,197,881 (GRCm39)	V216A	probably benign	Het
Or51ah3	A	G	7: 103,209,782 (GRCm39)	S33G	probably benign	Het
Or8k40	A	G	2: 86,584,282 (GRCm39)	S267P	possibly damaging	Het
Pappa2	C	A	1: 158,763,763 (GRCm39)	V583L	probably damaging	Het
Parp1	T	G	1: 180,415,680 (GRCm39)	S500A	probably benign	Het
Pcdhb17	A	G	18: 37,619,989 (GRCm39)	D593G	probably damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Prrc1	C	G	18: 57,496,271 (GRCm39)	S74W	possibly damaging	Het
Rag2	G	A	2: 101,460,419 (GRCm39)	G243D	probably damaging	Het
Sgpp1	T	C	12: 75,781,961 (GRCm39)	E126G	probably damaging	Het
Skic2	G	A	17: 35,064,198 (GRCm39)	T496M	probably benign	Het
Slc17a1	C	A	13: 24,064,432 (GRCm39)	F329L	probably benign	Het
Slc52a3	G	A	2: 151,846,512 (GRCm39)	V158I	probably benign	Het
Slf1	T	A	13: 77,273,575 (GRCm39)	T75S	possibly damaging	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Tmem125	A	T	4: 118,399,089 (GRCm39)	V114E	probably damaging	Het
Ube2f	A	T	1: 91,181,980 (GRCm39)		probably benign	Het
Zdhhc19	T	A	16: 32,315,992 (GRCm39)	F30I	probably damaging	Het
Zfp236	T	C	18: 82,662,050 (GRCm39)		probably benign	Het
Zfp462	C	A	4: 55,009,595 (GRCm39)	Y520*	probably null	Het
Zzz3	A	G	3: 152,133,920 (GRCm39)	D326G	probably damaging	Het

Other mutations in Krtap16-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Krtap16-1	APN	11	99,876,557 (GRCm39)	nonsense	probably null
IGL00578:Krtap16-1	APN	11	99,876,121 (GRCm39)	missense	probably benign	0.00
IGL02324:Krtap16-1	APN	11	99,877,129 (GRCm39)	missense	probably damaging	0.99
R0200:Krtap16-1	UTSW	11	99,876,123 (GRCm39)	missense	probably damaging	0.96
R0617:Krtap16-1	UTSW	11	99,877,321 (GRCm39)	missense	probably damaging	1.00
R1699:Krtap16-1	UTSW	11	99,876,852 (GRCm39)	missense	probably damaging	1.00
R1785:Krtap16-1	UTSW	11	99,876,602 (GRCm39)	nonsense	probably null
R2130:Krtap16-1	UTSW	11	99,876,602 (GRCm39)	nonsense	probably null
R2177:Krtap16-1	UTSW	11	99,877,275 (GRCm39)	missense	probably damaging	0.99
R4455:Krtap16-1	UTSW	11	99,876,559 (GRCm39)	missense	probably benign	0.44
R4716:Krtap16-1	UTSW	11	99,876,000 (GRCm39)	missense	probably damaging	0.99
R5111:Krtap16-1	UTSW	11	99,877,378 (GRCm39)	missense	possibly damaging	0.90
R5122:Krtap16-1	UTSW	11	99,876,523 (GRCm39)	missense	probably damaging	0.96
R5254:Krtap16-1	UTSW	11	99,876,424 (GRCm39)	nonsense	probably null
R5481:Krtap16-1	UTSW	11	99,876,153 (GRCm39)	missense	probably damaging	0.98
R6557:Krtap16-1	UTSW	11	99,875,956 (GRCm39)	missense	possibly damaging	0.90
R6884:Krtap16-1	UTSW	11	99,877,284 (GRCm39)	nonsense	probably null
R7085:Krtap16-1	UTSW	11	99,877,111 (GRCm39)	missense	possibly damaging	0.56
R7675:Krtap16-1	UTSW	11	99,876,259 (GRCm39)	missense	possibly damaging	0.52
R8517:Krtap16-1	UTSW	11	99,876,524 (GRCm39)	nonsense	probably null
R8903:Krtap16-1	UTSW	11	99,877,170 (GRCm39)	missense	probably damaging	0.96
R9047:Krtap16-1	UTSW	11	99,877,167 (GRCm39)	missense	probably damaging	1.00
R9110:Krtap16-1	UTSW	11	99,877,386 (GRCm39)	missense	probably benign	0.02
R9223:Krtap16-1	UTSW	11	99,876,071 (GRCm39)	missense	probably benign	0.02
R9262:Krtap16-1	UTSW	11	99,876,994 (GRCm39)	missense	probably benign	0.00
Z1176:Krtap16-1	UTSW	11	99,876,423 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCATCGTTTGACTATGTAGCAG -3'
(R):5'- TGCTTCCTGCCAACCAATG -3'

Sequencing Primer
(F):5'- CATCGTTTGACTATGTAGCAGGAAGG -3'
(R):5'- ACCAATGATCTGTGAGCCTG -3'

Posted On

2022-03-25