Mutagenetix > Incidental Mutation

Incidental Mutation 'R8528:Sertad4'

658882

Institutional Source

Beutler Lab

Gene Symbol

Sertad4

Ensembl Gene

ENSMUSG00000016262

Gene Name

SERTA domain containing 4

Synonyms

C130018M11Rik

MMRRC Submission

068498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R8528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192526796-192538060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192533391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000116176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016406] [ENSMUST00000155503] [ENSMUST00000155579]

AlphaFold

A7DTG3

Predicted Effect

probably benign
Transcript: ENSMUST00000016406
AA Change: V15A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000016406
Gene: ENSMUSG00000016262
AA Change: V15A

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
Pfam:SERTA	108	144	1.1e-18	PFAM
low complexity region	212	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155503
AA Change: V15A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142132
Gene: ENSMUSG00000016262
AA Change: V15A

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
Pfam:SERTA	108	144	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155579
AA Change: V15A

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116176
Gene: ENSMUSG00000016262
AA Change: V15A

Domain	Start	End	E-Value	Type
low complexity region	31	47	N/A	INTRINSIC
Pfam:SERTA	108	144	3.5e-20	PFAM
low complexity region	212	262	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,447,700 (GRCm39)	I169L	possibly damaging	Het
Ahnak	A	T	19: 8,985,092 (GRCm39)	K2125N	probably damaging	Het
Arl5b	T	A	2: 15,078,138 (GRCm39)		probably null	Het
Ccng2	T	C	5: 93,417,164 (GRCm39)	V60A	possibly damaging	Het
Cfap65	A	G	1: 74,945,096 (GRCm39)	V1442A	possibly damaging	Het
Cyp1b1	T	A	17: 80,017,993 (GRCm39)	E387D	probably damaging	Het
Dchs2	T	C	3: 83,261,918 (GRCm39)	S2729P	probably damaging	Het
Dnah11	A	G	12: 117,972,538 (GRCm39)	F2882S	probably damaging	Het
Dpy30	T	C	17: 74,606,757 (GRCm39)	D97G	probably benign	Het
Enam	T	A	5: 88,650,078 (GRCm39)	V454E	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Ero1b	T	A	13: 12,614,757 (GRCm39)	C240*	probably null	Het
Exog	A	G	9: 119,291,686 (GRCm39)	D297G	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fer1l5	A	G	1: 36,456,855 (GRCm39)	Y1611C	possibly damaging	Het
Firrm	T	C	1: 163,813,652 (GRCm39)	K191E	probably damaging	Het
Frmpd1	T	C	4: 45,285,034 (GRCm39)	V1285A	probably benign	Het
Gfpt1	G	C	6: 87,043,770 (GRCm39)		probably null	Het
Gm15446	T	C	5: 110,090,896 (GRCm39)	Y383H	possibly damaging	Het
Gsdmc	A	T	15: 63,649,189 (GRCm39)		probably null	Het
Hao1	A	G	2: 134,364,913 (GRCm39)	I238T	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kcnv2	T	A	19: 27,300,387 (GRCm39)	D79E	probably benign	Het
Lrrc8a	T	C	2: 30,145,557 (GRCm39)	Y124H	probably damaging	Het
Lrrc8d	T	A	5: 105,960,352 (GRCm39)	M254K	probably benign	Het
Map3k4	T	C	17: 12,451,821 (GRCm39)	N1489S	probably damaging	Het
Mapk8ip2	A	G	15: 89,339,422 (GRCm39)	D34G	probably damaging	Het
Myo9a	A	G	9: 59,767,423 (GRCm39)	T876A	probably damaging	Het
Pabpc2	C	T	18: 39,908,439 (GRCm39)	T568I	probably benign	Het
Pcdhga2	G	T	18: 37,802,221 (GRCm39)	A22S	probably benign	Het
Rc3h2	G	A	2: 37,272,811 (GRCm39)	T755I	probably benign	Het
Slc28a2	A	G	2: 122,286,223 (GRCm39)	K520E	probably damaging	Het
Slc4a10	T	C	2: 62,127,140 (GRCm39)	V831A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag17	A	T	3: 100,031,501 (GRCm39)	I2255F	possibly damaging	Het
Sprn	C	T	7: 139,733,423 (GRCm39)		probably benign	Het
Stim1	T	C	7: 102,080,289 (GRCm39)		probably benign	Het
Stk24	C	A	14: 121,529,447 (GRCm39)	A402S	probably benign	Het
Sycp2	A	G	2: 178,016,326 (GRCm39)	L712P	probably damaging	Het
Tenm3	C	T	8: 48,795,668 (GRCm39)	G269S	probably damaging	Het
Zdbf2	A	G	1: 63,342,545 (GRCm39)	E308G	possibly damaging	Het
Zfp442	A	C	2: 150,250,962 (GRCm39)	H312Q	probably damaging	Het

Other mutations in Sertad4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01974:Sertad4	APN	1	192,529,274 (GRCm39)	nonsense	probably null
R1531:Sertad4	UTSW	1	192,533,258 (GRCm39)	critical splice donor site	probably null
R1783:Sertad4	UTSW	1	192,529,340 (GRCm39)	missense	probably benign	0.00
R4106:Sertad4	UTSW	1	192,529,050 (GRCm39)	small deletion	probably benign
R5165:Sertad4	UTSW	1	192,529,130 (GRCm39)	missense	possibly damaging	0.85
R5362:Sertad4	UTSW	1	192,529,414 (GRCm39)	missense	probably damaging	1.00
R6243:Sertad4	UTSW	1	192,533,257 (GRCm39)	splice site	probably null
R7438:Sertad4	UTSW	1	192,529,018 (GRCm39)	missense	possibly damaging	0.71
R7699:Sertad4	UTSW	1	192,529,175 (GRCm39)	missense	possibly damaging	0.95
R7980:Sertad4	UTSW	1	192,529,189 (GRCm39)	missense	probably benign
R8017:Sertad4	UTSW	1	192,528,829 (GRCm39)	missense	probably benign	0.34
R8019:Sertad4	UTSW	1	192,528,829 (GRCm39)	missense	probably benign	0.34
R9116:Sertad4	UTSW	1	192,528,973 (GRCm39)	missense	probably benign	0.23
R9651:Sertad4	UTSW	1	192,528,836 (GRCm39)	missense	probably damaging	0.99
R9652:Sertad4	UTSW	1	192,528,836 (GRCm39)	missense	probably damaging	0.99
R9653:Sertad4	UTSW	1	192,528,836 (GRCm39)	missense	probably damaging	0.99
RF001:Sertad4	UTSW	1	192,529,486 (GRCm39)	missense	probably damaging	1.00
Z1088:Sertad4	UTSW	1	192,529,339 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTAGACACTGCCTCCTAAGGAG -3'
(R):5'- AGAGCTTGCTAAGGTTTCCTTG -3'

Sequencing Primer
(F):5'- TCCTAAGGAGAAGGCCAAAGG -3'
(R):5'- CCTTGGAAAAATAATCAGATGGTTGG -3'

Posted On

2021-01-18