Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Sdad1'

668491

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

MMRRC Submission

068547-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92431869-92457883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92452857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 127 (R127L)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031364] [ENSMUST00000201143] [ENSMUST00000202870]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031364
AA Change: R127L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: R127L

Domain	Start	End	E-Value	Type
Pfam:NUC130_3NT	62	113	3.3e-28	PFAM
low complexity region	116	126	N/A	INTRINSIC
low complexity region	146	163	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC
low complexity region	254	278	N/A	INTRINSIC
Pfam:SDA1	409	532	2.4e-41	PFAM
Pfam:SDA1	519	685	2.8e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201143
AA Change: R127L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: R127L

Domain	Start	End	E-Value	Type
Pfam:NUC130_3NT	62	113	5.3e-24	PFAM
low complexity region	116	126	N/A	INTRINSIC
low complexity region	146	163	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC
low complexity region	254	277	N/A	INTRINSIC
Pfam:SDA1	408	531	3.9e-37	PFAM
Pfam:SDA1	518	684	4.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202870

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,474 (GRCm39)	S924P	probably benign	Het
Acacb	A	G	5: 114,364,844 (GRCm39)	H1508R	probably damaging	Het
Adam34	T	C	8: 44,104,641 (GRCm39)	M335V	probably benign	Het
Akap8	A	T	17: 32,529,625 (GRCm39)	N438K	probably damaging	Het
Alpi	C	A	1: 87,026,405 (GRCm39)	G529C	unknown	Het
Arhgap30	T	C	1: 171,225,094 (GRCm39)	V50A	probably damaging	Het
Armh1	T	C	4: 117,088,960 (GRCm39)	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,804,582 (GRCm39)	L564P	unknown	Het
Cdk12	C	T	11: 98,141,133 (GRCm39)	P1458L	unknown	Het
Chek1	A	G	9: 36,625,140 (GRCm39)	F314L	probably benign	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Cnot3	T	C	7: 3,656,522 (GRCm39)	V239A	probably benign	Het
Cplane1	T	C	15: 8,258,492 (GRCm39)	M2246T	probably benign	Het
Crhr2	A	G	6: 55,079,779 (GRCm39)	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,192,631 (GRCm39)	V1692D	probably damaging	Het
Dctd	T	A	8: 48,565,046 (GRCm39)	I57N	probably damaging	Het
Dennd5b	A	T	6: 148,911,272 (GRCm39)	L977*	probably null	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dysf	T	C	6: 84,088,952 (GRCm39)	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,858,535 (GRCm39)	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,262,718 (GRCm39)	I757N	probably damaging	Het
Exog	A	G	9: 119,276,108 (GRCm39)	Q110R	possibly damaging	Het
Fbxl4	T	C	4: 22,403,704 (GRCm39)	C426R	probably benign	Het
Fndc11	A	C	2: 180,863,864 (GRCm39)	H223P	probably damaging	Het
Frmd3	T	A	4: 74,080,286 (GRCm39)	S334R	probably damaging	Het
Galnt14	A	T	17: 73,833,257 (GRCm39)	I239N	probably damaging	Het
Gm5930	C	T	14: 44,576,015 (GRCm39)	M1I	probably null	Het
Igkv4-63	A	G	6: 69,355,051 (GRCm39)	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,703,779 (GRCm39)	S42F	probably damaging	Het
Kalrn	T	A	16: 33,854,884 (GRCm39)	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,721,981 (GRCm39)	Y3788C	unknown	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lpo	T	C	11: 87,700,066 (GRCm39)	N525S	probably benign	Het
Med1	T	C	11: 98,046,599 (GRCm39)	H1399R	unknown	Het
Mga	T	A	2: 119,794,407 (GRCm39)	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,819,184 (GRCm39)	T188A	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Or10d1	G	T	9: 39,483,800 (GRCm39)	P252T	probably damaging	Het
Pbld1	A	T	10: 62,910,890 (GRCm39)	K248*	probably null	Het
Pcdhb12	G	A	18: 37,570,474 (GRCm39)	R540H	probably benign	Het
Pcx	G	T	19: 4,652,039 (GRCm39)	A96S	probably damaging	Het
Plcb1	A	G	2: 135,094,696 (GRCm39)	I174V	probably benign	Het
Psme3	T	C	11: 101,211,422 (GRCm39)	I193T	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rph3a	A	T	5: 121,100,501 (GRCm39)	H132Q	probably damaging	Het
Scrib	C	A	15: 75,936,354 (GRCm39)	D501Y	probably damaging	Het
Setdb1	T	C	3: 95,249,041 (GRCm39)	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 133,855,116 (GRCm39)	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,216,517 (GRCm39)		probably benign	Het
Slc17a8	G	A	10: 89,428,758 (GRCm39)	A261V	probably benign	Het
Sox6	T	A	7: 115,261,632 (GRCm39)	I195F	probably damaging	Het
Syne1	T	C	10: 5,090,928 (GRCm39)	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,086,855 (GRCm39)	T316M	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,451 (GRCm39)	T357A	probably benign	Het
Top2a	T	A	11: 98,900,868 (GRCm39)	T574S	probably damaging	Het
Trappc3l	G	A	10: 33,974,917 (GRCm39)	C133Y	probably damaging	Het
Unk	C	T	11: 115,938,640 (GRCm39)	T81I	probably damaging	Het
Vamp1	G	A	6: 125,217,388 (GRCm39)	R144K	unknown	Het
Wnt9b	T	C	11: 103,624,487 (GRCm39)	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,369,945 (GRCm39)	D390V	probably damaging	Het

Other mutations in Sdad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Sdad1	APN	5	92,451,632 (GRCm39)	splice site	probably null
IGL01355:Sdad1	APN	5	92,450,538 (GRCm39)	missense	probably damaging	1.00
IGL01635:Sdad1	APN	5	92,445,019 (GRCm39)	missense	probably damaging	0.98
IGL02166:Sdad1	APN	5	92,439,621 (GRCm39)	missense	probably benign	0.03
IGL02503:Sdad1	APN	5	92,449,661 (GRCm39)	unclassified	probably benign
IGL02739:Sdad1	APN	5	92,437,931 (GRCm39)	missense	probably benign	0.43
PIT4468001:Sdad1	UTSW	5	92,439,777 (GRCm39)	missense	probably damaging	1.00
R0583:Sdad1	UTSW	5	92,452,923 (GRCm39)	missense	probably damaging	0.97
R1169:Sdad1	UTSW	5	92,446,092 (GRCm39)	missense	probably benign	0.32
R1496:Sdad1	UTSW	5	92,457,682 (GRCm39)	missense	possibly damaging	0.94
R1844:Sdad1	UTSW	5	92,453,155 (GRCm39)	nonsense	probably null
R1848:Sdad1	UTSW	5	92,440,510 (GRCm39)	critical splice donor site	probably null
R2419:Sdad1	UTSW	5	92,453,677 (GRCm39)	missense	possibly damaging	0.69
R2497:Sdad1	UTSW	5	92,447,958 (GRCm39)	missense	probably benign	0.00
R2509:Sdad1	UTSW	5	92,453,684 (GRCm39)	missense	probably benign	0.12
R4043:Sdad1	UTSW	5	92,450,553 (GRCm39)	missense	probably damaging	0.96
R4384:Sdad1	UTSW	5	92,446,116 (GRCm39)	missense	probably benign	0.01
R4477:Sdad1	UTSW	5	92,445,019 (GRCm39)	missense	probably damaging	0.98
R4478:Sdad1	UTSW	5	92,445,019 (GRCm39)	missense	probably damaging	0.98
R4734:Sdad1	UTSW	5	92,452,836 (GRCm39)	missense	possibly damaging	0.61
R4749:Sdad1	UTSW	5	92,452,836 (GRCm39)	missense	possibly damaging	0.61
R5135:Sdad1	UTSW	5	92,451,793 (GRCm39)	missense	probably benign	0.00
R5288:Sdad1	UTSW	5	92,434,684 (GRCm39)	makesense	probably null
R6331:Sdad1	UTSW	5	92,451,789 (GRCm39)	missense	probably damaging	1.00
R7038:Sdad1	UTSW	5	92,446,049 (GRCm39)	critical splice donor site	probably null
R7099:Sdad1	UTSW	5	92,441,832 (GRCm39)	missense	possibly damaging	0.89
R7420:Sdad1	UTSW	5	92,453,596 (GRCm39)	missense	possibly damaging	0.91
R7425:Sdad1	UTSW	5	92,447,980 (GRCm39)	missense	probably benign	0.10
R7714:Sdad1	UTSW	5	92,450,538 (GRCm39)	missense	probably damaging	1.00
R8048:Sdad1	UTSW	5	92,447,948 (GRCm39)	missense	probably benign	0.01
R8198:Sdad1	UTSW	5	92,439,811 (GRCm39)	missense	probably damaging	0.96
R8347:Sdad1	UTSW	5	92,446,088 (GRCm39)	missense	probably benign	0.00
R8696:Sdad1	UTSW	5	92,437,645 (GRCm39)	missense	probably damaging	1.00
R8746:Sdad1	UTSW	5	92,437,784 (GRCm39)	missense	probably benign
R9004:Sdad1	UTSW	5	92,439,820 (GRCm39)	missense	probably benign	0.00
R9166:Sdad1	UTSW	5	92,446,080 (GRCm39)	nonsense	probably null
R9732:Sdad1	UTSW	5	92,438,942 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGGCTTTTGTAAGGAGAAC -3'
(R):5'- TCTTAGACCCAGATCTCCGC -3'

Sequencing Primer
(F):5'- CATATACTTGATATTGATCCCTGGTC -3'
(R):5'- CCAGATCTCCGCATGGTAGGAAG -3'

Posted On

2021-04-30