Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Shld2'

706344

Institutional Source

Beutler Lab

Gene Symbol

Shld2

Ensembl Gene

ENSMUSG00000041471

Gene Name

shieldin complex subunit 2

Synonyms

3110001K24Rik, Fam35a

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R9323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33958990-34032450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33981596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 514 (V514A)

Ref Sequence

ENSEMBL: ENSMUSP00000107548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000228704]

AlphaFold

Q3UEN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111917
AA Change: V514A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: V514A

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	163	177	N/A	INTRINSIC
Pfam:FAM35_C	694	866	4.6e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228704

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Atosa	C	T	9: 74,883,415 (GRCm39)		probably benign	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	probably benign	Het

Other mutations in Shld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Shld2	APN	14	33,990,582 (GRCm39)	missense	probably benign	0.02
IGL00962:Shld2	APN	14	33,971,208 (GRCm39)	missense	probably damaging	1.00
IGL01288:Shld2	APN	14	33,981,600 (GRCm39)	missense	probably benign	0.00
IGL01302:Shld2	APN	14	33,981,684 (GRCm39)	missense	probably benign	0.03
IGL01312:Shld2	APN	14	33,990,150 (GRCm39)	missense	possibly damaging	0.56
IGL01444:Shld2	APN	14	33,959,514 (GRCm39)	missense	probably damaging	1.00
IGL01633:Shld2	APN	14	33,971,136 (GRCm39)	missense	probably damaging	1.00
IGL02251:Shld2	APN	14	33,990,235 (GRCm39)	missense	probably benign	0.10
IGL02927:Shld2	APN	14	33,989,658 (GRCm39)	missense	probably damaging	1.00
IGL03183:Shld2	APN	14	33,967,143 (GRCm39)	missense	probably benign	0.02
IGL03226:Shld2	APN	14	33,990,328 (GRCm39)	missense	probably benign	0.08
R0111:Shld2	UTSW	14	33,989,686 (GRCm39)	missense	probably damaging	0.98
R1170:Shld2	UTSW	14	33,990,448 (GRCm39)	missense	possibly damaging	0.92
R1348:Shld2	UTSW	14	33,990,880 (GRCm39)	missense	probably damaging	1.00
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1538:Shld2	UTSW	14	33,990,833 (GRCm39)	missense	probably damaging	1.00
R1602:Shld2	UTSW	14	33,989,607 (GRCm39)	missense	probably damaging	1.00
R1650:Shld2	UTSW	14	33,981,574 (GRCm39)	intron	probably benign
R1777:Shld2	UTSW	14	33,990,130 (GRCm39)	missense	probably benign	0.07
R1843:Shld2	UTSW	14	33,989,760 (GRCm39)	missense	probably benign	0.01
R2425:Shld2	UTSW	14	33,990,646 (GRCm39)	missense	probably damaging	0.96
R3837:Shld2	UTSW	14	33,971,142 (GRCm39)	missense	probably damaging	0.99
R3838:Shld2	UTSW	14	33,967,325 (GRCm39)	missense	probably benign	0.01
R3904:Shld2	UTSW	14	33,981,666 (GRCm39)	missense	probably damaging	1.00
R3964:Shld2	UTSW	14	33,981,644 (GRCm39)	missense	probably damaging	1.00
R4322:Shld2	UTSW	14	33,981,632 (GRCm39)	missense	probably damaging	0.99
R4708:Shld2	UTSW	14	33,989,790 (GRCm39)	missense	probably benign	0.17
R4771:Shld2	UTSW	14	33,990,663 (GRCm39)	missense	probably damaging	1.00
R4838:Shld2	UTSW	14	33,990,582 (GRCm39)	missense	probably benign	0.02
R5448:Shld2	UTSW	14	33,990,327 (GRCm39)	missense	probably benign	0.32
R5874:Shld2	UTSW	14	33,967,215 (GRCm39)	missense	probably benign	0.08
R6332:Shld2	UTSW	14	33,990,129 (GRCm39)	missense	probably benign	0.07
R6333:Shld2	UTSW	14	33,989,565 (GRCm39)	missense	probably damaging	1.00
R6476:Shld2	UTSW	14	33,989,971 (GRCm39)	missense	probably benign	0.27
R6576:Shld2	UTSW	14	33,990,199 (GRCm39)	missense	probably damaging	1.00
R7172:Shld2	UTSW	14	33,959,525 (GRCm39)	missense	probably damaging	1.00
R7574:Shld2	UTSW	14	33,959,423 (GRCm39)	missense	probably damaging	1.00
R7725:Shld2	UTSW	14	33,990,661 (GRCm39)	missense	possibly damaging	0.86
R7755:Shld2	UTSW	14	33,970,847 (GRCm39)	missense	probably damaging	0.99
R7840:Shld2	UTSW	14	33,959,523 (GRCm39)	missense	probably damaging	1.00
R7881:Shld2	UTSW	14	33,989,724 (GRCm39)	missense	possibly damaging	0.63
R7947:Shld2	UTSW	14	33,990,436 (GRCm39)	missense	probably benign	0.27
R8192:Shld2	UTSW	14	33,967,173 (GRCm39)	missense	probably benign	0.04
R8443:Shld2	UTSW	14	33,989,942 (GRCm39)	missense	probably benign	0.00
R8492:Shld2	UTSW	14	33,967,189 (GRCm39)	missense	probably damaging	0.99
R9524:Shld2	UTSW	14	33,971,245 (GRCm39)	nonsense	probably null
X0009:Shld2	UTSW	14	33,967,143 (GRCm39)	missense	probably benign	0.02
Z1177:Shld2	UTSW	14	33,990,555 (GRCm39)	missense	probably damaging	1.00
Z1177:Shld2	UTSW	14	33,963,428 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CATATTTGTCTGCAGACTTACAGTG -3'
(R):5'- GCATCATGTCTTGCTATGATTGGTTAC -3'

Sequencing Primer
(F):5'- GCACAGTGTGACATCTCAGTGATTC -3'
(R):5'- TGCTATGATTGGTTACTATTGCTAC -3'

Posted On

2022-04-18