Mutagenetix > Incidental Mutation

Incidental Mutation 'R5077:Szrd1'

458194

Institutional Source

Beutler Lab

Gene Symbol

Szrd1

Ensembl Gene

ENSMUSG00000040842

Gene Name

SUZ RNA binding domain containing 1

Synonyms

D4Ertd22e

MMRRC Submission

042666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R5077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140840312-140867086 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 140867092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102487] [ENSMUST00000148204]

AlphaFold

Q6NXN1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000039939

SMART Domains

Protein: ENSMUSP00000035712
Gene: ENSMUSG00000040842

Domain	Start	End	E-Value	Type
Pfam:SUZ	36	87	7.7e-19	PFAM
Pfam:SUZ-C	99	132	2.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000094549

SMART Domains

Protein: ENSMUSP00000092128
Gene: ENSMUSG00000040842

Domain	Start	End	E-Value	Type
Pfam:SUZ	37	88	7.9e-19	PFAM
Pfam:SUZ-C	100	133	2.2e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102487

SMART Domains

Protein: ENSMUSP00000099545
Gene: ENSMUSG00000040842

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:SUZ	56	107	1.4e-17	PFAM
Pfam:SUZ-C	120	151	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128444

Predicted Effect

probably benign
Transcript: ENSMUST00000148204

SMART Domains

Protein: ENSMUSP00000115949
Gene: ENSMUSG00000040842

Domain	Start	End	E-Value	Type
Pfam:SUZ	50	101	1.7e-18	PFAM
Pfam:SUZ-C	113	146	1.3e-14	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

93% (51/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,080,200 (GRCm39)	V8A	possibly damaging	Het
Agbl4	A	T	4: 111,423,939 (GRCm39)	M322L	probably benign	Het
Ankrd55	A	G	13: 112,492,522 (GRCm39)	K231R	probably benign	Het
Asap1	A	C	15: 63,999,272 (GRCm39)	M534R	probably damaging	Het
B4galnt2	T	A	11: 95,767,140 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,437,475 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,594,224 (GRCm39)	I2311M	probably benign	Het
Capn2	G	T	1: 182,300,138 (GRCm39)	D617E	possibly damaging	Het
Catsper1	A	G	19: 5,385,998 (GRCm39)	D77G	probably damaging	Het
Cdc42bpa	A	T	1: 179,922,098 (GRCm39)		probably benign	Het
Cdca8	T	C	4: 124,820,470 (GRCm39)	K109E	probably damaging	Het
Dbx1	A	G	7: 49,283,242 (GRCm39)	S223P	probably damaging	Het
Dlg4	A	G	11: 69,917,852 (GRCm39)	N45S	possibly damaging	Het
Dlgap2	T	G	8: 14,872,691 (GRCm39)	V723G	probably benign	Het
Efl1	C	A	7: 82,307,295 (GRCm39)	Q64K	probably damaging	Het
Eml1	T	A	12: 108,472,871 (GRCm39)		probably benign	Het
Fbxw16	A	G	9: 109,270,117 (GRCm39)		probably null	Het
Gm10800	A	T	2: 98,497,379 (GRCm39)	L80M	probably benign	Het
H4c16	A	G	6: 136,781,113 (GRCm39)	Y89H	probably benign	Het
Insig2	A	T	1: 121,239,964 (GRCm39)	V112E	probably damaging	Het
Kcnip3	A	G	2: 127,307,797 (GRCm39)	S123P	probably damaging	Het
Map3k9	T	C	12: 81,780,851 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,372,658 (GRCm39)	V119A	probably damaging	Het
Naa25	G	A	5: 121,562,639 (GRCm39)	V474M	probably benign	Het
Nckap1	A	T	2: 80,379,277 (GRCm39)	V219E	probably damaging	Het
Niban1	A	G	1: 151,590,274 (GRCm39)	I523V	probably benign	Het
Nrp1	G	T	8: 129,227,154 (GRCm39)		probably null	Het
Nsun4	A	T	4: 115,905,781 (GRCm39)	D58E	probably benign	Het
Obscn	G	T	11: 58,934,883 (GRCm39)	A5249D	probably damaging	Het
Or8k53	A	T	2: 86,177,683 (GRCm39)	H142Q	probably benign	Het
Osmr	A	T	15: 6,873,874 (GRCm39)	Y174*	probably null	Het
Pi4k2a	T	C	19: 42,108,275 (GRCm39)		probably null	Het
Pram1	C	T	17: 33,863,878 (GRCm39)	Q572*	probably null	Het
Prdm5	C	A	6: 65,756,158 (GRCm39)	T25K	probably damaging	Het
Psen1	T	C	12: 83,771,439 (GRCm39)	Y240H	probably damaging	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rbck1	A	C	2: 152,160,371 (GRCm39)	M436R	probably benign	Het
Resf1	T	G	6: 149,227,528 (GRCm39)	S191R	probably benign	Het
Rmnd1	T	C	10: 4,377,488 (GRCm39)	N64D	possibly damaging	Het
Rsph4a	A	G	10: 33,784,275 (GRCm39)	D299G	probably damaging	Het
Sema4c	T	C	1: 36,590,812 (GRCm39)	S480G	probably benign	Het
Srp68	T	C	11: 116,136,638 (GRCm39)	D552G	probably damaging	Het
Syde2	G	T	3: 145,707,764 (GRCm39)	A568S	probably damaging	Het
Szt2	A	T	4: 118,226,813 (GRCm39)		probably null	Het
Tbc1d31	A	G	15: 57,818,797 (GRCm39)	E800G	probably benign	Het
Tmprss11d	C	A	5: 86,457,122 (GRCm39)		probably null	Het
Usp37	A	G	1: 74,480,720 (GRCm39)	V895A	probably damaging	Het
Vmn1r19	T	C	6: 57,382,026 (GRCm39)	I193T	probably benign	Het
Vmn2r102	T	C	17: 19,897,834 (GRCm39)	V283A	probably benign	Het
Vps13d	C	T	4: 144,814,811 (GRCm39)	G3180D	probably damaging	Het
Xirp2	A	C	2: 67,344,821 (GRCm39)	D2354A	probably benign	Het
Zc3h14	T	A	12: 98,723,465 (GRCm39)		probably null	Het

Other mutations in Szrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02658:Szrd1	APN	4	140,867,057 (GRCm39)	unclassified	probably benign
R0437:Szrd1	UTSW	4	140,846,055 (GRCm39)	missense	probably benign	0.11
R4790:Szrd1	UTSW	4	140,867,001 (GRCm39)	critical splice donor site	probably null
Z1088:Szrd1	UTSW	4	140,845,898 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTTAAGAGGCCTTCACGG -3'
(R):5'- CTCATGAAAGATGGAGGCCG -3'

Sequencing Primer
(F):5'- ACCGGGGGCCTCTCTTC -3'
(R):5'- AGATGGAGGCCGATCTGACTTC -3'

Posted On

2017-02-24