Mutagenetix > Incidental Mutation

Incidental Mutation 'R5298:Sowaha'

405541

Institutional Source

Beutler Lab

Gene Symbol

Sowaha

Ensembl Gene

ENSMUSG00000044352

Gene Name

sosondowah ankyrin repeat domain family member A

Synonyms

A830006N08Rik, Ankrd43

MMRRC Submission

042881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R5298 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53367405-53371022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53370355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 127 (R127Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067523] [ENSMUST00000104955]

AlphaFold

Q8BLS7

Predicted Effect

probably benign
Transcript: ENSMUST00000067523

Predicted Effect

probably benign
Transcript: ENSMUST00000104955
AA Change: R127Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100561
Gene: ENSMUSG00000044352
AA Change: R127Q

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	46	59	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	101	113	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	193	213	N/A	INTRINSIC
low complexity region	295	308	N/A	INTRINSIC
ANK	344	379	1.34e-1	SMART
ANK	383	413	5.84e-2	SMART
low complexity region	496	504	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 103,976,086 (GRCm39)	V287A	possibly damaging	Het
Adat2	A	G	10: 13,432,650 (GRCm39)	N51D	probably benign	Het
Alms1-ps1	T	C	6: 85,729,100 (GRCm39)		noncoding transcript	Het
Ccdc97	A	G	7: 25,415,432 (GRCm39)	V12A	probably damaging	Het
Cdcp2	T	C	4: 106,964,182 (GRCm39)	V344A	probably benign	Het
Clasp1	A	G	1: 118,475,650 (GRCm39)	D929G	possibly damaging	Het
Clip4	A	G	17: 72,141,220 (GRCm39)	N525D	probably damaging	Het
Csde1	T	A	3: 102,954,525 (GRCm39)		probably null	Het
D330020A13Rik	T	C	6: 120,271,777 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Fuca1	C	A	4: 135,664,237 (GRCm39)	Y374*	probably null	Het
Gle1	C	G	2: 29,838,955 (GRCm39)	P457A	probably benign	Het
Hadhb	T	C	5: 30,382,009 (GRCm39)		probably null	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lef1	A	T	3: 130,988,316 (GRCm39)	R294S	possibly damaging	Het
Lrriq4	G	T	3: 30,699,481 (GRCm39)	M1I	probably null	Het
Magi2	T	C	5: 20,774,160 (GRCm39)	S884P	probably damaging	Het
Mon2	A	G	10: 122,846,511 (GRCm39)	I1353T	probably benign	Het
Or4c127	T	A	2: 89,832,804 (GRCm39)	L18Q	possibly damaging	Het
Or5p81	A	G	7: 108,267,279 (GRCm39)	I219V	probably benign	Het
Parg	C	A	14: 31,924,210 (GRCm39)	A3E	probably damaging	Het
Per3	A	T	4: 151,113,666 (GRCm39)	D297E	probably damaging	Het
Pkhd1l1	A	T	15: 44,367,442 (GRCm39)	Y780F	probably benign	Het
Plcg2	A	G	8: 118,331,988 (GRCm39)	Y858C	probably benign	Het
Prkca	A	T	11: 107,903,510 (GRCm39)	N287K	probably damaging	Het
Qsox2	A	C	2: 26,104,074 (GRCm39)	S484A	probably damaging	Het
Reep4	G	A	14: 70,785,637 (GRCm39)	G225D	possibly damaging	Het
Scn4a	T	C	11: 106,230,212 (GRCm39)	E532G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc23a1	A	G	18: 35,755,563 (GRCm39)		probably null	Het
Spag9	T	C	11: 93,990,961 (GRCm39)	W626R	probably damaging	Het
Tasor2	T	C	13: 3,645,613 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,832,787 (GRCm39)	D340G	probably damaging	Het
Vmn1r193	A	T	13: 22,403,725 (GRCm39)	F89Y	probably damaging	Het
Zfp507	T	C	7: 35,475,421 (GRCm39)	N931D	probably damaging	Het

Other mutations in Sowaha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4810001:Sowaha	UTSW	11	53,369,290 (GRCm39)	missense	probably damaging	1.00
R2113:Sowaha	UTSW	11	53,369,789 (GRCm39)	missense	probably damaging	1.00
R4198:Sowaha	UTSW	11	53,369,395 (GRCm39)	missense	possibly damaging	0.84
R4746:Sowaha	UTSW	11	53,370,163 (GRCm39)	splice site	probably null
R4910:Sowaha	UTSW	11	53,369,272 (GRCm39)	missense	probably damaging	1.00
R4926:Sowaha	UTSW	11	53,370,337 (GRCm39)	missense	possibly damaging	0.94
R5564:Sowaha	UTSW	11	53,369,590 (GRCm39)	missense	probably damaging	1.00
R6056:Sowaha	UTSW	11	53,369,914 (GRCm39)	missense	probably damaging	1.00
R6947:Sowaha	UTSW	11	53,369,225 (GRCm39)	missense	probably benign	0.02
R7026:Sowaha	UTSW	11	53,370,050 (GRCm39)	missense	probably damaging	1.00
R7148:Sowaha	UTSW	11	53,370,182 (GRCm39)	missense	probably benign	0.04
R7263:Sowaha	UTSW	11	53,370,485 (GRCm39)	missense	probably benign	0.43
Z1176:Sowaha	UTSW	11	53,369,852 (GRCm39)	missense	probably benign	0.14
Z1177:Sowaha	UTSW	11	53,370,187 (GRCm39)	missense	probably benign	0.00
Z1189:Sowaha	UTSW	11	53,369,279 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ATGCAAGGCTTCTGCGGTG -3'
(R):5'- GCTTCAAGCAGTTCGTCAAC -3'

Sequencing Primer
(F):5'- ACTCTGTGCTCGTCAGGG -3'
(R):5'- CGTCAACAACGTGGCCG -3'

Posted On

2016-07-22