Mutagenetix > Incidental Mutation

Incidental Mutation 'R9628:Ankrd13c'

725263

Institutional Source

Beutler Lab

Gene Symbol

Ankrd13c

Ensembl Gene

ENSMUSG00000039988

Gene Name

ankyrin repeat domain 13c

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9628 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

157652876-157713671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 157653313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 50 (K50N)

Ref Sequence

ENSEMBL: ENSMUSP00000125831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000164582] [ENSMUST00000199727]

AlphaFold

Q3UX43

Predicted Effect

probably benign
Transcript: ENSMUST00000040787
AA Change: K50N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988
AA Change: K50N

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	8e-10	BLAST
ANK	143	172	2.66e-5	SMART
ANK	176	205	1.97e1	SMART
Pfam:GPCR_chapero_1	259	533	2.2e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164582
AA Change: K50N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125831
Gene: ENSMUSG00000039988
AA Change: K50N

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	8e-10	BLAST
ANK	143	172	2.66e-5	SMART
ANK	176	205	1.97e1	SMART
Pfam:GPCR_chapero_1	259	532	5.8e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199727
AA Change: K50N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988
AA Change: K50N

Domain	Start	End	E-Value	Type
low complexity region	27	52	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
Blast:ANK	108	139	2e-9	BLAST
ANK	143	172	1.7e-7	SMART
ANK	176	205	1.3e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,553,193 (GRCm39)	N635D	probably damaging	Het
Arhgef38	T	C	3: 132,838,025 (GRCm39)	Y635C	unknown	Het
Avl9	T	A	6: 56,713,460 (GRCm39)	Y239*	probably null	Het
C2cd3	T	A	7: 100,097,961 (GRCm39)	H1449Q		Het
Ccdc141	G	A	2: 76,844,838 (GRCm39)	P1410S	probably damaging	Het
Ccz1	G	A	5: 143,925,043 (GRCm39)	T471M	possibly damaging	Het
Cdh26	T	C	2: 178,083,213 (GRCm39)	S27P		Het
Cdk11b	T	G	4: 155,734,154 (GRCm39)	D756E	unknown	Het
Celsr3	C	A	9: 108,703,559 (GRCm39)	S14*	probably null	Het
Cntrob	T	C	11: 69,213,782 (GRCm39)	T3A	possibly damaging	Het
Cracd	A	G	5: 77,004,923 (GRCm39)	E428G	unknown	Het
Csde1	T	C	3: 102,962,825 (GRCm39)	V738A	probably benign	Het
Dazap1	T	C	10: 80,118,999 (GRCm39)	Y230H	unknown	Het
Dip2a	A	G	10: 76,142,993 (GRCm39)	I264T	probably damaging	Het
Dleu7	C	A	14: 62,530,144 (GRCm39)	A86S	possibly damaging	Het
Dnmbp	T	A	19: 43,858,646 (GRCm39)	D132V	probably damaging	Het
Dppa4	T	C	16: 48,111,672 (GRCm39)	V219A	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Egr4	T	C	6: 85,489,292 (GRCm39)	Y256C	probably benign	Het
Ess2	A	T	16: 17,720,757 (GRCm39)	M363K	probably damaging	Het
Fam124a	A	G	14: 62,825,010 (GRCm39)	E168G	probably damaging	Het
Gata4	T	C	14: 63,478,545 (GRCm39)	Y18C	probably damaging	Het
Gckr	C	A	5: 31,457,934 (GRCm39)	A147D	probably damaging	Het
H1f8	G	A	6: 115,924,700 (GRCm39)	V69I	probably damaging	Het
Hook1	T	C	4: 95,901,560 (GRCm39)	L506P	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Larp1b	T	C	3: 40,916,103 (GRCm39)		probably null	Het
Ldhb	T	C	6: 142,439,862 (GRCm39)	E226G	probably damaging	Het
Lpar5	T	G	6: 125,058,948 (GRCm39)	V223G	probably damaging	Het
Lrrc37a	A	G	11: 103,394,330 (GRCm39)	V365A	probably benign	Het
Lrrtm3	T	C	10: 63,923,776 (GRCm39)	K464E	probably damaging	Het
Ly75	A	G	2: 60,158,285 (GRCm39)	I1000T	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nphp4	T	C	4: 152,568,966 (GRCm39)	L35P	probably damaging	Het
Nptx2	G	A	5: 144,490,261 (GRCm39)	R230H	probably benign	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Or1e25	G	A	11: 73,493,864 (GRCm39)	V153I	probably benign	Het
Or4c111	A	G	2: 88,843,670 (GRCm39)	V246A	probably damaging	Het
Or8b1	T	G	9: 38,399,871 (GRCm39)	L182R	probably benign	Het
Padi6	G	A	4: 140,464,626 (GRCm39)	T201I	probably damaging	Het
Plscr4	C	T	9: 92,354,985 (GRCm39)	T13I	possibly damaging	Het
Ppp6r1	G	A	7: 4,636,112 (GRCm39)	A782V	probably benign	Het
Rab18	G	A	18: 6,788,647 (GRCm39)	V205M	probably benign	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,317,398 (GRCm39)	I722N	probably benign	Het
Slc17a4	A	G	13: 24,089,512 (GRCm39)	V135A	possibly damaging	Het
Slc30a5	A	G	13: 100,961,422 (GRCm39)		probably null	Het
Slc5a6	T	C	5: 31,197,746 (GRCm39)	Y321C	probably benign	Het
Spag7	A	T	11: 70,555,186 (GRCm39)	D178E	probably benign	Het
Swsap1	T	G	9: 21,867,172 (GRCm39)	S39A		Het
Tank	A	G	2: 61,483,876 (GRCm39)	T441A	probably benign	Het
Tor1aip1	C	A	1: 155,893,320 (GRCm39)	G276*	probably null	Het
Usp47	G	A	7: 111,705,999 (GRCm39)	M1220I	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r35	A	G	7: 7,815,702 (GRCm39)	V489A	probably benign	Het
Wif1	T	C	10: 120,932,549 (GRCm39)	V309A	possibly damaging	Het
Xpo4	T	C	14: 57,842,630 (GRCm39)	N434D	probably damaging	Het
Zfp462	A	T	4: 55,009,423 (GRCm39)	H463L	probably benign	Het

Other mutations in Ankrd13c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02313:Ankrd13c	APN	3	157,653,571 (GRCm39)	missense	probably damaging	0.97
IGL02943:Ankrd13c	APN	3	157,653,564 (GRCm39)	missense	probably damaging	1.00
R0449:Ankrd13c	UTSW	3	157,697,351 (GRCm39)	missense	probably benign	0.26
R0588:Ankrd13c	UTSW	3	157,711,454 (GRCm39)	missense	probably damaging	1.00
R0787:Ankrd13c	UTSW	3	157,700,315 (GRCm39)	missense	probably null	0.98
R1459:Ankrd13c	UTSW	3	157,677,947 (GRCm39)	missense	probably damaging	1.00
R1530:Ankrd13c	UTSW	3	157,697,358 (GRCm39)	missense	probably damaging	1.00
R1534:Ankrd13c	UTSW	3	157,706,757 (GRCm39)	missense	probably benign	0.01
R4632:Ankrd13c	UTSW	3	157,667,939 (GRCm39)	missense	probably damaging	0.99
R4946:Ankrd13c	UTSW	3	157,711,410 (GRCm39)	missense	probably damaging	1.00
R5154:Ankrd13c	UTSW	3	157,694,297 (GRCm39)	missense	possibly damaging	0.51
R5672:Ankrd13c	UTSW	3	157,666,664 (GRCm39)	critical splice donor site	probably null
R5935:Ankrd13c	UTSW	3	157,653,220 (GRCm39)	synonymous	silent
R6562:Ankrd13c	UTSW	3	157,705,309 (GRCm39)	missense	probably damaging	1.00
R7358:Ankrd13c	UTSW	3	157,697,374 (GRCm39)	nonsense	probably null
R7768:Ankrd13c	UTSW	3	157,694,284 (GRCm39)	missense	probably benign	0.33
R8543:Ankrd13c	UTSW	3	157,709,712 (GRCm39)	splice site	probably null
R9166:Ankrd13c	UTSW	3	157,705,357 (GRCm39)	missense	probably benign	0.00
R9272:Ankrd13c	UTSW	3	157,700,358 (GRCm39)	missense	possibly damaging	0.90
R9476:Ankrd13c	UTSW	3	157,697,396 (GRCm39)	missense	probably benign	0.01
R9629:Ankrd13c	UTSW	3	157,653,313 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTTCATGCTGCGTGCTAGG -3'
(R):5'- GGAAATTAGGCAAAGCTCACC -3'

Sequencing Primer
(F):5'- CCGCTCTAATCGCCCGG -3'
(R):5'- GGCAAAGCTCACCATGATTATCTTTC -3'

Posted On

2022-09-12