Mutagenetix > Incidental Mutation

Incidental Mutation 'R6947:Sowaha'

540934

Institutional Source

Beutler Lab

Gene Symbol

Sowaha

Ensembl Gene

ENSMUSG00000044352

Gene Name

sosondowah ankyrin repeat domain family member A

Synonyms

A830006N08Rik, Ankrd43

MMRRC Submission

045060-MU

Accession Numbers

Essential gene?

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

Stock #

R6947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53367405-53371022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53369225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 504 (F504L)

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: F504L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100561
Gene: ENSMUSG00000044352
AA Change: F504L

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: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,073,857 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,015,848 (GRCm39)	T414A	possibly damaging	Het
Bop1	A	G	15: 76,338,188 (GRCm39)	F561L	probably damaging	Het
Ccdc18	T	C	5: 108,309,401 (GRCm39)	V332A	probably benign	Het
Cep290	A	G	10: 100,365,918 (GRCm39)	T1042A	probably damaging	Het
Cnot8	G	T	11: 58,008,331 (GRCm39)	V266L	probably benign	Het
Cxxc4	C	T	3: 133,946,277 (GRCm39)	S286F	possibly damaging	Het
Cyp2d12	A	T	15: 82,443,248 (GRCm39)	I386L	probably benign	Het
Dgka	A	T	10: 128,568,884 (GRCm39)	I227N	probably damaging	Het
Eif2d	T	C	1: 131,092,404 (GRCm39)	V354A	probably benign	Het
Fgr	T	A	4: 132,722,380 (GRCm39)		probably null	Het
Idnk	A	G	13: 58,308,055 (GRCm39)		probably null	Het
Kmt2e	T	C	5: 23,702,543 (GRCm39)	S952P	probably damaging	Het
Kng1	A	G	16: 22,896,124 (GRCm39)	H343R	probably benign	Het
Lgals8	G	A	13: 12,469,682 (GRCm39)		probably benign	Het
Lrit3	T	A	3: 129,582,883 (GRCm39)	Q368L	probably benign	Het
Lypd8	A	T	11: 58,273,592 (GRCm39)	T24S	probably benign	Het
Map3k4	G	A	17: 12,479,456 (GRCm39)	Q704*	probably null	Het
Mcm3ap	A	G	10: 76,351,500 (GRCm39)	I1948V	probably benign	Het
Mettl25	A	G	10: 105,662,053 (GRCm39)	F306L	probably benign	Het
Mos	A	C	4: 3,871,585 (GRCm39)	V77G	probably damaging	Het
Muc4	C	T	16: 32,596,177 (GRCm39)	R3130C	possibly damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or1p4-ps1	C	T	11: 74,208,370 (GRCm39)	S173L	unknown	Het
Or5m10b	T	C	2: 85,699,271 (GRCm39)	F112L	probably benign	Het
Pcnx2	C	T	8: 126,577,021 (GRCm39)		probably null	Het
Pde10a	T	A	17: 9,188,424 (GRCm39)	I908N	probably damaging	Het
Plcb1	A	G	2: 135,228,075 (GRCm39)	K1058R	probably benign	Het
Rad17	A	T	13: 100,759,383 (GRCm39)	F548Y	probably damaging	Het
Rad54b	T	G	4: 11,569,859 (GRCm39)	S58R	possibly damaging	Het
Rbm20	G	A	19: 53,839,696 (GRCm39)	G895D	probably damaging	Het
Rgs22	T	C	15: 36,104,036 (GRCm39)		probably null	Het
Rhobtb3	A	G	13: 76,058,785 (GRCm39)	S338P	probably benign	Het
Ruvbl2	A	G	7: 45,074,373 (GRCm39)		probably null	Het
Slc16a12	A	G	19: 34,650,007 (GRCm39)	F343L	probably benign	Het
Slc22a28	A	G	19: 8,041,875 (GRCm39)	L444P	possibly damaging	Het
Slc44a4	A	T	17: 35,147,044 (GRCm39)	Q358L	probably null	Het
Syne1	A	G	10: 5,125,789 (GRCm39)	L6035P	probably damaging	Het
Thbs2	A	T	17: 14,910,029 (GRCm39)	M190K	possibly damaging	Het
Tmem171	A	G	13: 98,824,950 (GRCm39)	F227L	possibly damaging	Het
Trp53	A	G	11: 69,479,307 (GRCm39)	K162E	possibly damaging	Het
Ttn	T	A	2: 76,724,732 (GRCm39)	K2098*	probably null	Het
Usp30	T	C	5: 114,241,821 (GRCm39)	S88P	probably benign	Het
Zfp276	C	A	8: 123,981,643 (GRCm39)	D63E	probably benign	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
R5298:Sowaha	UTSW	11	53,370,355 (GRCm39)	missense	probably benign
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
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'- TGAGACAGACTGCCGGTTTG -3'
(R):5'- GCGATCTATGATGGAGCCTGATG -3'

Sequencing Primer
(F):5'- GTCTTGGACAGGCTTAGACAGC -3'
(R):5'- CTGATGCGGCCAGTGGTG -3'

Posted On

2018-11-28