Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4468001:Sdad1'

555633

Institutional Source

Beutler Lab

Gene Symbol

Sdad1

Ensembl Gene

ENSMUSG00000029415

Gene Name

SDA1 domain containing 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

PIT4468001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92431869-92457883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92439777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 416 (D416G)

Ref Sequence

ENSEMBL: ENSMUSP00000031364 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031364
AA Change: D416G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: D416G

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

probably damaging
Transcript: ENSMUST00000201143
AA Change: D415G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: D415G

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

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.2%
20x: 72.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,348,940 (GRCm38)	L34F	probably damaging	Het
Alms1	T	C	6: 85,601,701 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,133,143 (GRCm39)	Q350K	probably damaging	Het
Bbs1	T	A	19: 4,956,190 (GRCm39)	H35L	probably benign	Het
Cep85	T	C	4: 133,876,008 (GRCm39)	N468S	probably damaging	Het
Chd8	T	C	14: 52,455,338 (GRCm39)	I1050V	possibly damaging	Het
Chd8	A	C	14: 52,445,453 (GRCm39)	D1709E	probably benign	Het
Clec9a	G	A	6: 129,396,597 (GRCm39)		probably null	Het
Cyp2c70	T	A	19: 40,153,806 (GRCm39)	D261V	probably damaging	Het
Deup1	T	C	9: 15,475,301 (GRCm39)	N420D	possibly damaging	Het
Dpys	T	A	15: 39,720,601 (GRCm39)	D53V	probably damaging	Het
Edem1	A	G	6: 108,821,828 (GRCm39)	E295G	probably damaging	Het
Farp2	G	T	1: 93,456,499 (GRCm39)	E61*	probably null	Het
Fat3	T	G	9: 15,907,647 (GRCm39)	D2785A	probably benign	Het
Fbxo30	T	A	10: 11,166,700 (GRCm39)	M474K	possibly damaging	Het
Gm13090	C	A	4: 151,175,539 (GRCm39)	P93Q	unknown	Het
Gm21976	A	T	13: 98,443,535 (GRCm39)	R229*	probably null	Het
Gpr108	A	T	17: 57,554,563 (GRCm39)	L25Q	probably null	Het
Hdac9	C	A	12: 34,145,933 (GRCm39)	V920F	unknown	Het
Ighv13-2	T	C	12: 114,321,593 (GRCm39)	S49G	probably benign	Het
Krt6a	T	C	15: 101,602,352 (GRCm39)	Y111C	probably damaging	Het
Mib1	T	C	18: 10,798,463 (GRCm39)	S775P	possibly damaging	Het
Mki67	A	G	7: 135,300,876 (GRCm39)	I1386T	probably benign	Het
Mroh2b	A	G	15: 4,942,294 (GRCm39)	E352G	probably damaging	Het
Nfya	A	G	17: 48,702,805 (GRCm39)	M61T	unknown	Het
Ntn4	A	G	10: 93,480,587 (GRCm39)	T104A	probably damaging	Het
Numb	G	A	12: 83,854,921 (GRCm39)	T135I	probably damaging	Het
Or4b12	C	A	2: 90,096,564 (GRCm39)	C70F	probably benign	Het
Or52ab4	A	C	7: 102,987,807 (GRCm39)	E182A	probably damaging	Het
Or5m5	A	T	2: 85,814,792 (GRCm39)	T203S	probably benign	Het
Parpbp	A	C	10: 87,979,935 (GRCm39)	L7R	probably benign	Het
Pcdhb8	T	C	18: 37,489,686 (GRCm39)	Y455H	probably damaging	Het
Pcdhga10	T	A	18: 37,880,936 (GRCm39)	D232E	probably damaging	Het
Pcdhga9	T	A	18: 37,872,527 (GRCm39)	C785*	probably null	Het
Pkd1l3	A	G	8: 110,391,131 (GRCm39)	Y1913C	possibly damaging	Het
Pld4	T	G	12: 112,734,256 (GRCm39)	L374R	probably damaging	Het
Ppp1r13b	A	T	12: 111,805,136 (GRCm39)	I350N	probably benign	Het
Rc3h2	C	A	2: 37,289,651 (GRCm39)	G387V	probably damaging	Het
Rfwd3	T	C	8: 112,009,352 (GRCm39)	H408R	probably benign	Het
Rpl3l	A	G	17: 24,954,457 (GRCm39)	T173A	probably benign	Het
Srp72	C	A	5: 77,142,053 (GRCm39)	T430K	probably benign	Het
Steap1	C	A	5: 5,786,642 (GRCm39)	G265V	probably damaging	Het
Sulf2	A	T	2: 165,922,720 (GRCm39)	I670N	probably benign	Het
Tcf7l2	A	T	19: 55,730,820 (GRCm39)	D16V	probably damaging	Het
Tmem100	T	A	11: 89,926,187 (GRCm39)	S5T	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Trak1	T	C	9: 121,282,398 (GRCm39)	S436P	probably benign	Het
Ttyh1	T	C	7: 4,122,771 (GRCm39)	Y40H	possibly damaging	Het
Ubxn8	T	A	8: 34,111,569 (GRCm39)	S275C	probably benign	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Upk3b	C	T	5: 136,071,861 (GRCm39)	T222M	probably benign	Het
Usp42	T	A	5: 143,700,399 (GRCm39)	K1208M	probably damaging	Het
Vmn2r25	A	T	6: 123,816,557 (GRCm39)	D341E	probably benign	Het
Vmn2r83	T	G	10: 79,313,884 (GRCm39)	L164R	probably damaging	Het
Vwa8	G	T	14: 79,420,501 (GRCm39)	R1734L	probably damaging	Het
Zfand2b	G	T	1: 75,146,476 (GRCm39)	R117L	probably benign	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
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
R8693:Sdad1	UTSW	5	92,452,857 (GRCm39)	missense	probably benign	0.09
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'- TCTTCTGCAGCATCTGAGGG -3'
(R):5'- TGCAACTGTTGGGAATGTCAG -3'

Sequencing Primer
(F):5'- CAGCATCTGAGGGTTCAATGTCC -3'
(R):5'- AATGTCAGTCTGTAGGGCCC -3'

Posted On

2019-06-07